Genetics Reading notes

Class #1
Genes and the future
Genes and the present
Francis Collins and victor mckusick – implications of the human genome project for
medical science
• Predictive genetic tests
• Interventions like medical surveillance, lifestyle modifications,diet or drug
therapy
• Eventually primary care practitioners will apply it
o Have to explain complicated statistical probabilities
• Gene based designer drugs introduced
• Improved diagnosis and treatment of cancer likely most advanced of the clinical
consequences of genetics
Neil holtzman putting the search for genes in perspective
• Only when disease-related genotypes are present at many different loci and envir
exposures occur do common diseases develop in most people
• Constellations that researchers discover will confer low relative risks for the
disease
o Tests for these genotypes will have low positive predictive value
o Most with positive results never develop the disease
o If no treatment for the disease some that may have it may not want testing
• Environmental risks should be considered more than genotypes
Barbara katz rothman genetic maps and human imaginations: limits of science in
understanding who we are
• Scientists can’t separate their values from research
• The map genotypes are creating may lead somewhere we don’t want to go
Structure of dna
• Molecule consisting of string of chemicals called nucleotides
• Each nucleotide is composed of sugar, phosphate and a base
• Sugars and phosphates of the nucleotides are connected to one another to form a
long strip like the side of the ladder
• Half rungs of the ladder consist of bases sticking out from the side
o Their order or sequence forms the genetic code of the organism
o Four bases are adenine, guanine, cytosine and thymine known by their
initials A only bonds with T and vice versa and G with C
• Humans have 3 billion rungs, ecoli has 4 million yeast 15 million
• Triggered by cellular enzymes dna duplicates or replicates by unwinding frim
double helix shape and breaking apart at bonds between the pairs
o When the helix unzips freestanding bases bind to exposed bases of dna
strands according to binding rules
Cells and chromosomes
• Most human dna in cell nucleus
 o Each cell nucleus contains chromosomes – physically distinct,
microscopic structures composed of double strands of dna folded and
twisted so they can fit into confined space
o There are 24 different chromosomes
 2 determine sex
 22 are autosomes
o Most cell nuclei contain two sets of 23 chromosomes or total of 46 each
has 22 autosomes and a sex chromosome
o One set from mother one from father
• Small amount of human dna found outside cell nucleus in cell structures called
mitochondria
Gene and proteins
• Sequences of nucleotide bases contain instructions for making proteins
o Stretches of dna containing protein instructions are called genes
 Genes are said to code for specific proteins
 Proteins consist of long, complex chains of twenty different types
of amino acids
• In gene stretches of dna there are sequences of bases called
exons that code for specific amino acids
• Each sequence is called a codon ro triplet and is only three
bases long
• Other stretches called introns do not code for amino acids
• Transcription – portion of double strand of dna unwinds and breaks apart then
different enzymes construct different type of complimentary strand using three of
the four dna nucleotides, a fourth nucleotide called uracil binds with A the same
as T and different type of sugar, ribose hence the name RNA
o This form of rna contains not only triplets but also introns producing a
strand that only contains amino acid coding sequences
o This is messenger RNA mRNA
• Translation – the messenger rna exits cell nucleus and enters cytoplasm where it
encounters ribosome , ribosome reads the sequence in the messenger RNA and
puts together a chain of amino acids which becomes a protein
o There are fewer than 30,000 human genes some can code for more than
one protein
Genetic differences among individuals
• People who have a lot more CAG repeats interfere with production of the
huntingtin protein and they will get Huntington disease
• Cystic fibrosis comes when CTT are missing from certain location position 508
• Alleles – different versions of the same gene among different individuals
o Alleles produce genetic disease and also account fro variety of observable
characteristics
o Differences in genetic make-up, or genotype, produce differences in
observable characteristics or phenotype
The human genome project
 • To determine location of all human genes
• Parallel effort Dna of model organisms studied to understand functioning of
human genome
• Mapping and sequencing the human genome
o The sequence will be generic sequence representative of humans in
general and not of any particular individual
• Partial sequences can be compared against this complete sequence
o Genetic map
o Maps can id genes associated with diseases
o Genes that lie close together on chromosome better chance of being
inherited
o Centimorgan – one centimorgan apart if they are separated during
transmission from parent to children one percent of the time
o Physical map
o One type of physical map describes order and spacing of markers on dna
molecule
o Second type consists of cloned pieces of dna that represent complete
chromosome or chromosomal segment, together with info about the order
of the cloned pieces
o Sequencing
o Viruses are the only organism for which a complete dna sequence has
been determined
Patterns of inheritance
• Egg only have X sex chromosome
• Sperm contains either x or y
• Characteristics other than gender can result from environmental factors, from
genes or combination of both
• Genetic factors can come from single gene or interaction of multiple genes
• If sequences from bases from both parents identical it is homozygous
o Otherwise it is heterozygous
o To have blue eyes you both copies of the eyecolor gene have to be lueeyed
since blue is recessive
o Can carry recessive trait even if you display the dominant
o Only need one copy of the Huntington disease
• Autosomal – means that single gene that is associated with the characteristic is
located on one of the 22 pairs of chromosomes that od not determine gender
• Penetrance and expressivity
•

II. REGULATION OF RESEARCH

A. Types of genetic research
• 1. pedigree studies – pattern of inheritance of diseases and catalogue range of
symptoms 2. gene sequencing research and 3. clinical genetic research
Pedigree studies
 • Identifying individual family members presenting disease or condition it results in
pedigree analysis
Sequencing studies and proteomics
• Determiing chemical make-up of the genome
• Linkage studies to determine whether those with certain genetic makeup are more
likely to develop certain diseases
• Next major research in deciphering relationship bt genes and disease will be in
field of proteomics focusing on proteins created due to instructions of messenger
rna
Clinical genetic research
B. the federal approach
Greely the control of genetic research regulation
• Two levels of research
o 1. fed law requires proposals submitted for human studies
o 2. individuals be fully informed about nature, scope and risks
• Any research funded by fed govt is required by reg to take certain steps to protect
human subjects
o Risks must be justified by potential benefits of research
o All research must be approved by irbs which determines whether research
meets fed standard
• Any research to be used in supporting applications to the FDA must also satisfy
regs for protecting subjects
o Basically the same but this is expanded to research performed by
institutions that do not receive fed grants
o This applies to companies from any country

FEDERAL RESEARCH REGULATIONS 45 C.F.R. section 46.101

Part 46 protection of human subjects
Sub part A basic HHS policy for protection of human research subjects
• (b) unless otherwise required research where humans only involvement is in
one or more of the following are exempt from this policy
o (4) collection of data etc where subjects cannot be identified
• (e) compliance with the policy requires compliance with fed laws or regs
which provide additional protection
• (f) policy does not affect state laws which may be applicable and provides
extra protection
46.102
• (d) research means systematic investigation. Included whether or not they are
under program which is considered research for other pruposes
• (f) human subject – living individual about whom conducting research obtains
o (1) data through intervention or interaction w/individual or
o (2) identifiable private info
o Intervention – both physical procedures and manipulations of subject
or subject’s envir. Interaction includes com or interpersonal contact bt
investigator and subject. Private info – info that occurs in context
 where individual can expect no observation or recording taking place
or info provided for specific purposes and can expect will not be made
public
• (g) irb means institutional review board
• (h) irb approval means determination of irb that the research has been
reviewed and may be conducted at institution w/in constraints set forth by irb
and by other institutional and fed requirements
• (i) minimal risk means risk of harm or discomfort not greater in and of
themselves than those ordinarily encountered in daily life or during
performance of routine physical or psychological examinations or tests
46.107 IRB membership
• (a) each irb five members w/varying backgrounds. Qualified through
experience and expertise of members. Diversity will also consider race,
gender, and cultural backgrounds. Must contain someone knowledgable in
regs, applicable law, and standards of professional conduct
• (b) nondiscriminatory efforts will be made
• (c) at least one member whose concerns are in scientific area and one in
nonscientific
• (d) at least one member not affiliated with the institution or family member
who is
• (e) irb member may not participate if there is a conflict of interest
• (f) may invite individuals to participate if they have expertise
46.111 criteria for irb approval of research
• (a) to approve research irb to determine
o (1) risks minimized i. using procedures that do not unnecessarily
expose to harm ii. Use procedures already being performed on subjects
for diagnostic or treatment
o (2) risks benefits from research as compared to those if research was
not being conducted. Not to include long term effects of knowledge
gained in research
o (3) be cognizant of vulnerable populations
o (4) informed consent will be sought
o (5) informed consent documented
o (6) monitor data for safety also
o (7) provisions to protect privacy
• (b) protect rights and welfare of subjects vulnerable to coercion
46.116 general requirements for informed consent
• Must get informed consent and provide subject w/opportunity to consider
participation no coercion or undue influence. Informed consent cannot include
language that waives legal rights or releases investigator from liability
o (a) elements of informed consent
 (1) description of procedures and any that are experimental
 (2) description of any reasonably foreseeable risks
 (3) description of any benefits
 (4) alternative procedures or treatment that might be

advantageous
 (5) describe extent to which confidentiality will be maintained
 (6) what is available if injury occurs
 (7) who to contact with questions about research
 (8) participation is voluntary no penalty
o (b) one or more of following also be provided
 (1) unforeseeable risks may exists
 (2) participation may be terminated w/out subject’s consent
 (3) any additional costs
 (4) consequences of subject’s withdrawal
 (5) findings will be provided to the subject
 (6) approx number of subjects involved
o (c) irb may approve informed consent which alters the above if irb
finds that:
 (1) the project subject to approval of state, local govt officials
and is to examine i. public benefit service programs ii.
Procedures for obtaining benefits or services under those iii.
Possible changes in or alternatives to those programs or
procedures or iv. Changes in methods or levels of payment for
benefits or services under those programs and
 (2) research could not be carried out practicably w/out waiver
or alteration
o (d) irb may approve consent which alters some or all elements or
waive requirements if it finds and documents that
 (1) research involves no more than minimal risk to subjects
 (2) will not adversely affect welfare or rights
 (3) research could not be practicably carried out w/out waiver
or alteration and
 (4) subjects provided w/pertinent info after participation
o (e) informed consent here not to preempt fed, state or local laws which
require more info
o (f) nothing should limit authority of physician to provide emergency
med care
C. SPECIAL CONCERNS ABOUT GENETIC RESEARCH
US DEPT OF HEALTH AND HUMAN SERVICES, OFFICE OF PROTECTION
PROTECTING HUMAN RESEARCH SUBJECTS

HUMAN GENETIC RESEARCH

• Human genetic research – study of inherited human traits
• Ability to predict health problems
• Us human genome project produces better genetic maps and sequencing
technology
• Findings about one subject can have effect on others need for info sharing
 • Risks of pedigrees studies, identification of genes, and dna diagnostic studies
are of social and psychological harm, rather than risks of physical injury
o Provoke anxiety and confusion, damage family relationships, and
compromise subjects’ insurability and employment opportunities
o Although study may only include collection of family history not to be
classified as minimal risk studies for expedited irb review
• Subject recruitment and retention
o In pedigree revealing who else in the family agreed to participate may
be undue influence
o Proband is the person who is the stimulus of the study
 Using the proband to recruit may result in undue influence by
them
o Direct recruitment by the investigator through phone calls may be
invasion of privacy
o Recruitment by support groups must be good for the irb to approve
o Contact individuals through their physicians but individuals may feel
then that their healthcare will be in jeopardy if they don’t participate
• Defining risks and benefits
o Psychological or social risks learning genetic info about oneself
o Some info will prove to be wrong
o Benefit of this research is it can reduce uncertainty about developing
disease
 Might plan better for the future
o Irbs should make sure counseling is provided
o Irbs concern is to ensure that risks will be disclosed to subjects and
then to protect subjects against unwarranted disclosures of info
• Privacy and confidentiality protections
o Irbs should keep in mind that family members are not entitled to each
other’s info
 Must obtain consent to reveal medical info to family members
o When one family member provides info about another is this ethical
o Family members should agree ahead of time as to what they might
learn and what they will not learn
o Should be given option of not receiving genetic info about yourself
• Publication process
o Where risk of id in published work can result participants must
consent in writing
o Consent to publication should be granted immediately prior to
publication and not as consent to the research
III. RESEARCH ON PREVIOUSLY-COLLECTED TISSUE SAMPLES
A. THE NATURE OF THE RESEARCH
NATIONAL BIOETHICS ADVIOSRY COMMISSION RESEARCH INVOLVING
HUMAN BIOLOGICAL MATERIALS: ETHICAL ISSUES AND POLICY
GUIDANCE
 • Is it appropriate to use stored bio materials in ways not originally contemplated
• Does it matter whether the material is identifiable
• Policies should permit investigators to have access to id info to enable them to
gather necessary data regarding subjects
• Some cases acceptable for investigators to tell subjects about results of tests on
their bio materials

B. CASE STUDY OF RESEARCH ON EXISTING SAMPLES

• Brochure from cdc
• Panel to determine whether there is anything preventing using blood samples for
genetic research w/out asking people who provided it
CENTERS FOR DISEASE CONTROL AND PREVENTION, NATIONAL
HEALTH AND NUTRITION EXAMINATION SURVEY
• National health and nutrition examination survey – national collection of health
data through physical measurements, lab testing, and health interviews
Notes and questions
1. would have to collect new stuff with specific consent for new testing
2. suggested guidelines: specific consent, must include risk/benefits, confidentiality,
recontact circumstances, and ability to withdraw from project
a. should also be given opportunity to strip id from samples, share in profits
of any commercial products resulting from the findings
b. those in id or linkable research should also be given choice
i. whether samples shared w/other investigators
ii. samples for study of certain disorders
3. ability to withdraw from study should also allow for destruction of samples at any
time

IV. BIOBANKS
A. overview of biobanking
ROTHSTEIN EXPANDING THE ETHICAL ANALYSIS OF BIOBANKS
• biobanks = repositories of human biological materials collected for biomedical
research
• traditional research involves 1. single researcher or group 2. obtaining and using
samples in defined ways to research in discrete areas and 3. obtaining informed
consent from each research subject to use his or her sample and to disclose
subject’s health info
• biobanks 1. entity obtaining sample may only be broker fro sample 2. purpose of
biobank is to develop repository that can be used for many research protocols in
numerous scientific areas 3. biobank contemplates future research activities 4.
research using biobanks seeks to move beyond one study/one informed consent
model to format of obtaining
• nature and degree of risk of biobank research depends on 1. identifiability of
sample and any linked health info and 2. whether samples are extant or to be
collected prospectively
intrinsic harms
 • even if specific info is removed if there are race, gender identifiers and
research finds they are more likely to have a disease this could lead to stigma
consequential harms
• genetic nondiscrimination laws attempt to prevent discrimination in health
insurance and employment but they provide little protection
o for insurance individuals are only protected while asymptomatic
o in employment laws do not prohibit employers from obtaining results
of genetic tests recoded in individual medical records
informed consent and authorization
• current rules contemplate individual consent, individual risks and benefits
and largely individual consequences
• irbs attempting to protect groups or societal interests are left without clear
direction by the common rule
• with biobank research more diffuse benefits, less individual risks at time of
collection,
• two main issues in debate on necessity or nature of informed consent for
biobank research:
o 1. informed consent is broadly required when samples collected,
stored, or released in individually identifiable form
• There are many variations of terms from id’d to anonymous
o 2. informed consent depends on whether samples are extant or
prospective
• Proposals relax rules on informed consent for archival
samples, especially those not identifiable
Notes:
Iceland biobank
• Catalog Icelandic dna and family histories small population that passed through
the plague and a famine
• Data is encoded to protect identities
• Icelanders can opt out of their data being entered
• Led to id of gene that could cause a stroke
• Mapped genes for artery disease, heart attack, asthma, hypertension, stroke,
osteoporosis, and schizophrenia
• Privacy protection may not be good enough, since population is so small could
figure out identities
• 20,000 have filed forms to opt out of the program
UK biobank
• Uk biobank is going to study disease in those bt 40-69
• 500,000 participants
o Give rights to access their health records for up to 30 years
• Uk biobank says they will not sell the samples and law enforcement will need a
court order to access the data
Dr. catalona
• A doctor asked patients undergoing surgery if he could keep tissue for research
 • When the doctor left Washington university he wanted to bring the samples with
him, the university said they were gifted to the school and no longer up to patients
to decide what happened to them, the school won and got to keep the tissue
•

VII. RESEARCH ON HUMAN EMBRYOS

A. purpose of embryo research
• No two states have identical laws covering fetal research, abortion, organ
transplant, and payment for body tissue
• Fed law and regs limit type of experimentation that may be undertaken with
human embryos
• Three types of embryo research being conducted concering genetics:
o 1. where embryo is intended to be used to create a child
 Includes research to diagnose or treat genetic diseases in embryo
 Bc of link bt some forms of embryo research and reproductive
decisions bans on embryo research of this type have been
challenged as unconstitutional
o 2. embryos created in process of in vitro fertilization but not implanted
 Embryos often frozen then destroyed
o 3. embryos created specifically for research
 Latter two to benefit other individuals
• Fed law bans research which destroys embryos so question about circumstances
under which federally-funded research can undertake embryo stem cell research
B. constitutional concerns in embryo research

Lifchez v hartigan
• Class of p physicians challenged Illinois stat banning research on fetuses and
embryos in way that prohibited novel reproductive technologies and experimental
genetic testing
• Vagueness
o Section 6(7) of Illinois abortion law:
o No experiment on fetus produced by fertilization of human ovum by
human sperm uless it is therapeutic to fetus, intentional violation is
misdemeanor, nothing here should prohibit performance of in vitro
fertilization
o Dr. lifchez says that state’s failure to define experimentation and
therapeutic renders stat vague, thus violating due process 14th amend
o The court agrees
o Vague laws violate due process in three ways
 1. fail to give adequate notice of what conduct is prohibited
 2. they invite arbitrary and discriminatory enforcement by police,
judges, and juries
  3. vague standards of unlawful conduct coupled with prospect of
arbitrary enforcement will cause people to steer far wider of
unlawful zone
• Fundamental principle of due process that persons of
common intelligence not be forced to guess at the meaning
of crim law
• A. experiment or routine test?
o Failure to define means person of common intelligences be forced to guess
whether conduct is unlawful
 No single definition for experimentation
o The federally applied definition of experimentation for human research
subjects = systematic investigation designed to develop or contribute to
generalizable knowledge
• Procedures that dr. lifchez conducts can be divided into 3 kinds
o 1. diagnostic
o 2. in vitro and related technologies
o 3. procedures performed exclusively for benefit of pregnant woman
• Statute’s vagueness affects all three kinds
• Diagnostic procedures
o Amniocentesis drawing embryonic fluid to determine birth defects
o Amniocentesis could be considered experimental under at least two of dr.
lifchez’ definitions
 Could be pure research since fetus does not benefit or if
practitioner doing it for first time
• B. Therapeutic intent
o Ds claim that the intent requirement save it from being vague
o If practitioner is unable to tell whether the procedure is experiment or test
grafting on requirement that he intend it to be one or the other does not
mitigate the vagueness of what is being forbidden
• Reproductive privacy
o Illinois abortion law also unconstitutional bc it impermissibly restricts
woman’s fundamental right to privacy, her right to make reproductive
choices free of govt interference
o Since there is no compelling state interest sufficient to prevent woman
from terminating her pregnancy during first trimester no such interest is
sufficient to intrude upon other protected activities during first trimester
C. Embryo stem cell research
1. how embryo stem cell research is performed
NATIONAL INSTITUTES OF HEALTH PLURIPOTENT STEM CELLS: A PRIMER
• Stem cells ability to divide without limit and give rise to specialized cells
• Totipotent – potential is total
• After first few hours after fertilization forms two totipotent cells
• After first few days formation of hollow sphere of cells called blastocyst
o Blastocyst has outer layer of cells that will form placenta
 o Inner cell mass has pluripotent – can giveirse to many types of cells but
not all types
 The inner cells undergo specialization for particular function
• Human pluripotent cell lines have been developed from two sources with methods
previously developed in work with animals
o 1. one doctor isolated pluripotent cells directly from inner cell mass of
human embryos at blastocyst stage
 Embryos were going to be destroyed, they were used for
fertilization and consent was granted
o 2. another doctor isolated pluripotent stem cells from fetal tissue obtained
from terminated pregnancies, got consent
• Use of somatic cell nuclear transfer (scnt) known as cloning may be another way
that pluripotent stem cells could be isolated
o Scnt researchers take normal animal egg cell and remove nucleus
o The material left behind are essential for embryo development
o Then fuse somatic cell (any cell other than egg or sperm) and fuse it with
egg
o The fused cell is believed to be totipotent
o These cells soon form blastocyst
o Then the cells from the inner cell mass of blastocyst could be used to
develop pluripotent stem cell lines
• Potential applications of pluripotent stem cells
o Can help us understand events that occur during human development
 Decision-making process that results in cell specialization
o Drugs could be tested against human cell lines
 Allow testing of more cell types
 Streamline drug development
o Cell therapies
 Pluripotent stem cells offer renewable source of replacement cells
and tissue to treat myriad of diseases
2. legal implications of embryo stem cell research
MEMORANDUM FROM HRRIET RAAB GEN COUNSEL DEPT OF HEALTH AND
HUMAN SERVICES TO DIRECTOR NATIONAL INSTITUTES OF HEALTH ON
FEDERAL FUNDING FOR RESEARCH INVOLVING PLURIPOTENT STEM CELLS
• Legal opinion on whether fed funds may be used for research conducted with
human pluripotent stem cells derived from embryos created by in vitro
fertilization or from primordial germ cells isolated from tissue of non-living
fetuses
• SUMMARY ANSWER
o Statutory prohibition on use of funds for human embryo research would
not apply to research utilizing human pluripotent cells bc they are not
human embryo w/in statutory definition
o Only if they are considered human are they subject to statutory prohibition
 o Presidential directive banning fed funding of human cloning would aply to
pluripotent stem cells only if used for cloning
• ANALYSIS
• PROHIBITION ON FED FUNDING OR HUMAN EMBRYO RESEARCH
o No funds made available in appropriations act may be used for:
 Creation of human embryo for research purposes or
 Where human embryos are destroyed, discarded or knowingly
subjected to risk of injury or death
o Human embryos defined as any organism not protected as human subject
under 45 cfr 46 that is derived by fertilization, parthenogenesis, cloning, or
any other means from one or more human gametes or human diploid cells
o Organism not defined
 According to dictionary organism is individual constituted to carry
out all life functions
 Pluripotent do not have capacity to develop into organism that
could perform all life functions of human being
 They are human cells with potential to develop into other cells
o Embryo is product of conception up to third month of human pregnancy
 Pluripotent stem cells do not have capacity to develop into human
being
• RESTICTIONS ON USE OF HUMAN FETAL TISSUE
o Some stem cells may fall within legal definition of human fetal tissue and
would therefore be subject to fed reg
 Fetal tissue – tissue or cells obtained from dead human embryo or
fetus after spontaneous or induced abortion or after a stillbirth
o Public health service act three relevant provisions
 1. crim prohibition against sale of human fetal tissue for valuable
consideration
• If it affects interstate commerce and the scientist providing
the materials sought payment in excess of expenses
included in statutory definition of valuable consideration
 2. restrictions on fetal tissue transplantation research supported by
fed funds and
• Requirements for transplantation of fetal tissue
o 1. informed consent of woam donating
o 2. statement by attending physician regarding
woman’s consent and method of obtaining tissue
o 3. statement by researcher regarding understatingin
of source of tissue, info conveyed to donee, and
researcher has not participated in any decision
regarding termination of pregnancy
 3. prohibition on directed donation of fetal tissue for
transplantation
 •
Unlawful to solicit or knowingly acquire, receive, or accept
donation of human fetal tissue for purpose of
transplantation into another if tissue will be or is obtained
pursuant to induced abortion and there is promise to donor
o 1. to transplant tissue into person specified by donor
o 2. tissue will be transplanted into relative of donor
or
o 3. donee of tissue has provided valuable
consideration for costs associated with abortion
• FEDERAL RESTRICTIONS ON FETAL RESEARCH
• PROHIBITION ON FED FUNDING FOR CLONING OF HUMAN BEINGS
o Cannot use pluripotent cells for cloning

REMARKS BY BUSH ON STEM CELL RESEARCH

D. California stem cell research initiative

ARTICLE XXXV MEDICAL RESEARCH
• Established California instuttute for regenerative medicine
o Purposes of institute
 A. make grants loans for stem cell research to result in cure for
major diseases, injuries and orphan diseases
 B. support all stages of research
 C. establish regulatory standards
o No funding for human cloning
o Continuous appropriation
 Continuously appropriated and not subject to legislation
o Right to conduct stem cell research; types of research
 Research involving progenitor cells or pluripotent cells
o Bonds authorized
o Institute and employees exempt from civil service

California health and safety code

DIV 106 PESONAL HEALTH CARE
PART 5 HEREDITARY DISEASES/CONGENITAL DEFECTS
CHAPTER 3 CALIFORNIA STEM CELL RESEARCH AND CURES BOND ACT
Article 1 stem cell research and cures act
• Creates independent citizen’s oversight committed icoc to govern the institute
• Icoc 29 members appointed as follows
o California university not from university of cal that has
 Research hospital and med school
 History of administering scientific and med reseach grants and
contracts exceeding 100mil
 Highest number of life science patents
 o Non-profit academic or research institution that is not part of university of
California with success in stem cell research and has
 Research hospital or clinical faculty members of national academy
of sciences
 History of managing life sciences budget exceeding 20mil
o Life science commercial entity that is not actively engaged in reseaching
or defeloping therapies that has background in implementing successful
experimental medical therapies
o Only one member appointed from single university, institution or entity
• Public meeting laws
o Icoc two public meetings per year one of which designated as institutes
annual meeting
o Icoc awards made at public meetings and adopt governance there

GAP

CHAPTER 6 GENETIC TESTING TECHNOLOGY

I. genetic testing technology
• Amniocentesus used to get cell material
o Would either visually look at the chromosomes or use FISH to paint them
• Direct type of info obtained by linkage analysis
o To identify the diseased gene
• Southern blotting to find the target gene
o Chop the dna with a chemical, then sift it through a porous jelly-like
substance and pass electric current through it
o The dna is split into single strands
o Radioactive probes are sent through and the result is put on xray film and
compared to normal dna
o This was first technique to allow detection and isolation of abnormal
genes
• PCR is a method of copying a strand of dna and makes it easier to see the target
mutation
• Dna sequencing
o Stretch of dna is amplified and single strands are produced

III. Prenatal screening

A. Introduction
• Genetic testing offers more precise predictions about risks of passing on particular
genetic disease
B. Prenatal screening techniques
LORI B ANDREWS FUTURE PERFECT: CONFRONTING DECISIONS ABOUT
GENETICS
• Family history, then amniocentesis about 30 years ago
• Genetic testing allows us to see if there is genetic mutation in parent to help
decide whether or not to test the fetus for a disease
 • Testing fetus tells us about parents that may have a recessive disorder
• More than 500 conditions can be diagnosed through chorionic villi sampling or
amniocentesis
• Some studies claim genetic testing can predict shyness, attempted rape,
homosexuality etc
• Couples have sued when they felt deprived of prenatal genetic info
The Physical Risk of Prenatal Screening
• Sampling blood through fetoscopy 3-6 percent chance of fetal death (older
method)
• Amniocentesis causes spontaneous abortions in 1-2 of every 1,000
• Chorionic villi sampling tissue surrounding the fetus is sampled and analyzed bt
eight and twelve weeks gestation
o CVS causes limb deformities in 1 in 3000
• Many instances the women being offered the genetic test have some experience
with disorders for which fetus is being tested
o Relatives with disorder
o Racial group
• Now can do some genetic testing with blood sample from woman and separate the
fetal cells found in her blood
C. Liability for malpractice in prenatal screening
Lori Andrews torts and the double helix: malpractice liability for failure to warn of
genetic risks
• Various courts held physicians and geneticists have duty to disclose info to
parents concerning genetic risks to potential offspring and diagnostic procedures
available
o Wrongful life
• Early cases of wrongful birth rejected the notion that failure to warn parents of
fetus’ risk of serious defect was actionable bc physician was not proximate cause
of the defect
o Liability for missed diagnosis in other areas of medicine was and still is
common even though in such cases the physician did not cause the illness
o Courts were reluctant to recognize wrongful birth cause of action bc
abortion at the time was illegal
• One court said the value of genetic testing programs is based on opportunity of
parents to abort afflicted fetuses within appropriate time limitations
• Now cause of action exists when physicians fail to warn prospective parents that
they are at risk of conceiving or giving birth to child with serious genetic disorder
o Where reasonable physician should have known the risks due to one or
both parents belonging to particular ethnic or racial group
o Courts find physicians liable for failing to discuss availability of genetic
services when specific risk assessment services are available
• Wrongful life suits = physician’s negligence his failure to adequately inform
parents of risk has caused birth of the deformed child
o Child argues that but for the inadequate advice it would not have been
born to experience the pain and suffering attributable to deformity
 o Allegation that one would be better of in a state of nonexistence than state
of impaired existence
o Courts have recognized wrongful life cause of action when doctors failed
to advise prospective parents of genetic risks or provided erroneous
information
Simmons v west Covina medical clinic
• Whether health care provider liable for failure to offer particular genetic test
have to look at predictive ability of the test
• Physician did not offer to test blood of pregnant woman to determine fetus’
level of alpha-fetoprotein
• Wrongful life/birth
• High level of alpha-fetoprotein shows fetus may have neural tube defect
• Numerous false positives thus it requires follow up tests
• Low level of this protein may mean down syndrome
o Only detects 20% of time
• The woman gave birth to baby with down syndrome
• Cali health dept required physicians advise in regards to the test
• Although they were negligent since it was only 20% accurate it did not have
causal connection
• Has to meet reasonable medical probability test of proximate cause
Keel v banach
• Med mal for failing to detect severe life-threatening fetal abnormalities
• Sonogram photos were retained in the medical records
• Cause of death was blood clots from the heart impregnating the lungs and a
known but unpreventable risk of the shunt
• Say that sonogram findings should have prompted an amniocentesis which would
have diagnosed the fetus’ neurotube defect
• Wrongful birth – claim for relief for parents who allege they would have avoided
conception or terminated the pregnancy but for the negligence of those charged
with prenatal testing
o Proximate result of negligently performed or omitted genetic counseling
or testing from making informed decision whether to conceive potentially
handicapped child or in event of pregnancy to terminate it
• Action for wrongful birth of genetically defective child may be maintained
• Whether d’s negligence was proximate cause of parent’s being deprived of the
option of avoinding conception
• P should be put in position they would have been absent d’s negligence
o Courts allow cost of treatment and special resources not the entire cost of
rearing the child
• Emotional distress is also compensable
Munro v regents of the university of California
• They said they were not jewish so no test was given for tay-sachs disease
• Baby diagnosed with tay-sachs disease
• There is a French Canadian population that have tay-sachs
 o Munros did not know they were French Canadian until after the
counseling
• Sued for med mal and infliction of emotional distress
• Ds granted sum judge
• Prior case causal relationship bt ds failure to inform and p’s injury was supplied
by p’s counterdeclaration that if the inherent risks had been revealed she would
not have consented to treatment given
• Here the ps cannot prevail in lack of informed consent
• Info ps now claim ds were under duty to divulge related to a small or remote risk
and was generally unnecessary from the patient’s viewpoint in light of what they
knew at the time of counseling
Curlender v bio-science laboratories
• Tests performed and due to physician negligence incorrect and inaccurate info
was disseminated
• Prior case recognized the parents cause of action for wrongful life but not the
parents
• No fundamental right that child has to be born as whole functional human
o Too philosophical
• Court rejects damages based on if the child had been born with a normal life
expectancy
• Recovery for pecuniary loss is allowed parents should consolidate suits
• Punitive damages allowed here
Doolan v ivf America
• Had one kid with cystic fibrosis did not want another with it
• Had embryos tested
• Inserted one that was not infected
• Discovered that the kid did have cystic fibrosis
• Universal rule that physician is not liable to child who was born due to his
negligence
o Monetary values of existence and nonexistence not possible
• Essence of claim here is that alleged negligence of ds denied parent opportunity to
choose not to conceive
• Parents can only recover for loss of consortium against person who caused injury
o Did not provide evid that physician caused cystic fibrosis
• Loss of consortium for child never born is too speculative
Mandatory prenatal screening
Lori Andrews – prenatal screening and the culture of motherhood
• Panels have found that due to the psychological and social risk of genetic testing
it should be voluntary
o No justification for state sponsored mandatory test
• Plus fetal testing will give more info on the mother affecting her self image
• Informational privacy
• Since mandatory genetic testing would provide info to third parties it could be
breach of privacy
 • Fourth amend protections
• Mandatory blood testing is considered search and seizure
• Protection of bodily integrity, reproductive autonomy and parenting decisions
• Could argue right to refuse fetal cell sorting based on common law
o Protection of individual’s bodily integrity and constitutional protections of
reproductive autonomy
• Supreme court decision on child rearing social traits is matter for parents to
decide

Reproductive technology and genetics

Procedures
Mary pelias and Margaret deangelis – the new genetic technologies: new options, new
hope and new challenges
• Most technologies for treatment of infertility and circumventing having child
with genetic problem are founded in in vitro fertilization
• One way to ensure healthy offspring is use sperm and egg that do not have
genetic flaws
• Another is preimplantation genetic diagnosis
o PGD includes blastomere analysis bf implantation which is molecular
examination of the dna of very early in vitro embryo
• Can use gamete intrafallopian transfer – introduction of sperm or both eggs and
sperm into woman’s reproductive tract bf fertilization
B. genetic screening in the contect of assisted reproduction
Minimal genetic screening for gamete donors, approved by the board of directors of the
American society for reproductive medicine

Stopped at p 344

Class 11 assignment
Admissibility of dna evid
The science of forensic dna testing
• In the 1970s it was more common for to use blood groups and serum groups for
evid in civil criterion of preponderance of the evid rather than crim criterion
beyond a reasonable doubt
• 1985 use of dna was discovered
• In the 1980s most courts admitted dna but a few cases were overturned saying the
dna admitted was not sufficient
• Polymerase chain reaction PCR allows for taking of very minute sample of dna
• Mtdna is mitochondrial dna and each cell contains hundreds to thousands of
mitochondria
o Has relatively low discriminatory power and dependence for that power on
creation of large databases of mtdna sequences
• YSTR dna is specific to males only
• SNP single nucleotide polymorphism –
 • Two standards for deciding whether evid is admitted – general acceptance test and
sound methodology
o Some states have adopted statutes to decide whether dna is admitted
• Frye test – proponent of scientific test must establish that the underlying
methodology are generally accepted within relevant portions of the scientific
commuity
o 1992 nrc report proposed that courts take judicial notice of scientific
underpinnings of dna typing
 Courtroom debate has revolved instead around application of those
principles to forensic samples and the procedures for declaring a
match and interpreting its importance
Legal standards for admissibility
National research council the evaluation of forensic dna evid
• Must satisfy standard required for scientific evid
• Two standards exist
o 1. general acceptance
o Sound methodology test
• Some jurs have statutes
• General acceptance is the frye test – proponent of the evid must establish that the
underlying theory and methodology are generally accepted within relevant
portions of the scientific community
o Debate revolves around application of the scientific principles to the
sample
• Sound methodology standard – daubert v merrell general acceptance as absolute
prerequisite
• Before daubert state and fed construed their rules of evid as not including rigid
requirement of general acceptance
o 1992 nrc report described helpfulness standard
 General acceptance of scientific principles
 Qualifications of experts testifying
o Many states have said that their helpfulness standard was identical to
daubert
Assessing the reliability of dna evid
Eric lander, dna fingerprinting: science, law and the ultimate identification in the code of
codes: scientific and social issues in the human genome project
• Dna fingerprinting can be problematic
• Dna forensics – have to work with whatever sample you have, no opportunity to
take new samples, samples may have been exposed to environmental insults like
mixtures of samples from diff individuals, sometimes only a microgram or less to
work with, sample may be used up by the test
• In dna diagnostics only have two options – which alleles has parent passed on
• In dna forensics have to determine what variations are significant and must assess
probability that the match might have occurred by chance
o Must know distribution of band patterns in the population
• To determine probability can take sample of population
 • Calif v Collins
o Statistician multiplied frequency of blonde women x frequency of black
men x frequency of interracial couples
• Clinical laboratory errors occur at 1-5% of the time
Concerns about dna evid
• Dna analysis v. statitstical analysis
• If stats are not independent of each other they cannot be multiplied together
o Man with mustache 1 in 6, man with beard 1 in 6 not ind cannot equal 1 in
36
Wisconsin v dabney
• Dabney found guilty of kidnapping and two counts of first-degree sexual assault
• Appeals saying that warrant only identified him using dna and was insufficient for
personal jurisdiction
o Also says that amended complaint was barred by statute of limitations
o Says Due process violated due to 6 year gap bt crime and prosecution
• This court says that reasonable certainty does not apply to both the arrest warrant
and the complaint
o Only to the warrant
• Issue: whether complaint and arrest warrant using dna to identify the d/suspect
meets reasonable certainty requirement
o Particularity/reasonable certainty does not require the use of the person’s
name
o Person may be identified with best description available
 Warrant may use Occupation, personal appearance, peculiarities,
place of residence
 Has to show that law enforcement had probable cause to suspect
particular person of committing crime
• Genetic code is more descriptive than just a name
o But it would be helpful for notice purposes to give a description as well
• Complaint and warrant satisfy the statutory requirements
• Other claims
o D is not entitled to specific notice that the state is issuing a complaint and
seeking an arrest warrant
 Warrant was not executed until the ds name was substituted for
john doe
o To show violation of due process on basis of prosecutorial delay
 1. actual prejudice as result of delay
 2. that delay arose as result of improper purpose
Obtaining dna samples for a match
Lori Andrews and Dorothy nelkin, body bazaar: the market for human tissue in the
biotechnology age

Edward imwinkelried & d. h. kaye, dna typing: emerging or neglected issues

• Officials can:
 o Seek court order to compel individual to submit to sampling
o Use preexisting collection of dna
o Can take sample with consent
o Can locate sample that has been abandoned
• With judicial approval police can use force to extract biological material
o Once the police attain a dna profile they are permitted to compare it to
unrelated profiles from other crimes
• If person is under arrest a warrant is not needed
• Supreme court said fourth amendment requires exclusion of evid that is the fruit
of unreasonable search and seizure
o Since suspect was detained without warrant or probable cause the
fingerprints were inadmissible
o Under narrow circumstances fingerprint detention may be allowed
• This led some states to allow detention for obtaining evid of iding physical
characteristics by showing reasonable cause that felony has been committed and
proof that physical characteristics may contribute
• Dna collection cannot be done repeatedly or to harass
Post conviction dna testing (innocence project)
Seth axelrad and Juliana russo survey of post-conviction dna testing statutes
Who may apply for post-conviction dna testing
• More than half states limit to felons
o Two states limit to capital offenders
• Must be in state custody
What evid can be tested
• Evid related to crime, stored so as not to be degraded, not previously tested
Is prosecutor involved in process
• At least have to notify the prosecutor of post conviction testing
Review criteria for the petition
• Must show identity of perpetrator was issue at trial
• Evid to be tested is relevant to identity of perpetrator
• Show that ahd dna evid been introduced would have resulted in diff outcome
Who pays for costs of testing
• Costs of testing go to applicant

GAP

Class 12 assignment
Behavioral genetics
Intro
• Experts agree that temperament and behavior of animals including humans is
affected by genetics
o Do not agree on how influential genes are to certain things
 • Two leading problems in behavioral genetics are 1. defining the endpoint and
2. excluding possible confounding factors
• All have led to the genetics of schizophrenia
History of behavioral genetics
Mark Rothstein – behavioral genetic determinism: its effects on culture and law,
behavioral genetics: the clash of culture and biology
• Iq tests for the army showed that immigrants from southern and eastern Europe
scored much lower than either native-born Americans or immigrants from
northern Europe
o Based on this congress decided to reduce immigration from southern and
eastern Europe
• Negative eugenics – preventing the reproduction of the genetically unfit
• Positive eugenics – encouraging the mating of those with favored genetic
endowments
• Post wwII biological determinism was replaced by cultural, behavioral or
environmental determinism
o Partly as response to Nazis
o Partly due to acceptance of social science explanations
• Human genome project official began in 1990
• Study that said gentic component of iq is not likely smaller than 40% or higher
than 80%
• Marshmallow experiment – ability to delay gratification was twice as powerful a
predictor of future SAT scores than was IQ
Scientific issues
Robert plomin, john defries ian craig and peter mcguffin – behavioral genetics, in
behavioral genetics in the postgenetic era
• Emerged from era of strict environmental explanations for differences in
behavior to more balanced view that recognizes the importance of nature as well
as nurture
o Shift occurred first fro behavioral disorders like autism schizophrenia and
reading disability
o Recently it has become increasingly accepted that genetic variation
contributes importantly to differences among individuals in the normal
range of variability as well as for abnormal behavior
• New tech can show links bt disorders and normal variations
• Behavioral genomics
• Greatest impact for behavioral science will come after genes have been identified
• Finding genes is expensive
• Genotyping is inexpensive
• Allele 4 quadruples chance of having lateonset alzheimer’s dementia
• Gene on chromosome 12 causes a metabolic disorder that results in severe mental
retardation
o Has been prevented by change in diet
IV criminal law
Overview
Mark Rothstein – applications of behavioral genetics: outpacing the science
• Behavioral genetics could be used in almost every aspect of crim justice system
• Dna forensic profiling used
• Behavioral genetic info could be used at bail hearing
• May be used for insanity defense at trial
• Might be used to predict likelihood of individual committing future sex crimes
Culpability
Lori Andrews – predicting and punishing antisocial acts: how the criminal justice system
might use behavioral gentics, in behavioral gentics: the clash of culture and biology
• Where individual was not acting under free will the law provides a variety of
mechanisms to avoid traditional crim penalties
• Evidence of genotype might mitigate punishment
• Unjust to punish bc actions are provked by illness rather than chosen behavior
• Defenses unlikely to be accepted if individual had opportunity to obtain genetic
status and do something about it
o Driver who knows he is prone to blackouts could be tried for manslaughter
• If person’s genetic status causes him or her to be insane the individual can be
found not guilty by reason of insanity
o 20 states require proof that individual did not know nature or quality of act
or did not know they were doing wrong
o 27 states and dc require d to prove he lacked substantial capacity to
appreciate criminality of his or her conduct or to control that conduct to
the requirements of law
o Fed law can be found not guilty by reason of insanity only if unable to
appreciate nature and quality or wrongfulness of their acts
o Majority states offer guilty but mentally ill
• Punishment is to deter from committing further acts, incapacitate and exact
retribution
o For genetic deterministic nothing can be done to change their behavior
Millard v Maryland
• Charged with robbery with a deadly weapon
• Statute said – found insane at time of commission of crime if lacks substantial
capacity either to appreciate criminality of his conduct or to conform his conduct
to requirements of the law as result of mental disease or defect
• Extra y chromosome
• Appellant has to show proof sufficient that judge could properly find as matter of
law that presumption of sanity had been rebutted and doubt raised in the minds of
reasonable men as to his sanity
• Appellant cut himself while in jail
• Expert testified that presence of extra y chromosome caused marked physical and
mental problems
o Affects the manner in which the person reacts to certain situations
• Expert said the cuts on the arms looked like actual attempts at suicide
 o He said that the d’s actions and mannerisms did not fall within the realm
of sanity
o Appellant had propensity toward crime due to defect
o Not sure if the appellant was able to comprehend the consequences of the
crime
• State’s psychiatrist and five others said the appellant was not insance
o Said the extra y chrom was a physical defect not affecting the brain
• Trial judge sent the case to trial
• This court says trial court was correct
o Mere fact that appellant had genetic abnormality does not suffice to show
that under section 9a he lacked substantial capacity either to appreciate
criminality of his conduct or to conform his conduct to the law
• Even if defect was established to be mental would have to relate the effect of the
defect to substantial capacity
• Appellants expert did not have competence in psychiatry in this case
o His opinion as to sanity was not competent
Privacy and confidentiality
Intro
• Difficult to 1. reach consensus on definition of privacy and confidentiality,
security, and anonymity 2. distinguish genetic privacy from more general notions
of medical privacy, 3. differentiate among intrinsic and consequential benefits and
harms associated with presence or absence of privacy – genetic discrim 4. balance
interests genetic privacy and confidentiality against other social interests and 5.
devise thoughtful practical and effective legislative and regulatory measures to
protect genetic privacy
SISSELA BOK SECRETS: ON THE ETHICS OF CONCEALMENT AND
REVELATION
• Psychosis defined as breaking down of delineation bt self and outside world
• Experience limited to the inside world stunts the individual
Genetic privacy and confidentiality
Analytical framework
Anita allen genetic privacy: emerging concepts and values, in genetic secrets: protecting
privacy and confidentiality in the genetic era
• Four dimensions of genetic privacy
• Privacy generally refers to one of the following: 1. informational privacy
concerns about access to personal information 2. physical privacy concerns about
access to persons and personal spaces 3. decisional privacy concerns about govtl
and other third party interference with personal choices and 4. proprietary
privacy concerns about appropriation and ownership of interests in human
personality
• Genetic privacy often denotes informational privacy
David orentlicher gentic privacy in the patient-physician relationship in genetic secrets:
protecting privacy and confidentiality in the genetic era
• Informational privacy is valuable regardless of whether the info it shields is
viewed positively or negatively by others
 • May want to keep info from yourself
• People expected to display certain traits may be encouraged to develop those traits
• Implications for family members too who may carry a certain trait
Lori Andrews future perfect: confronting decisions about genetics
• Little protection exists for private medical information
• Some statutes only protect medical info in hands of doctors and not genetic info in
hands of phds
Costs and benefits
Alexander doroynski – privacy rules blindside French glaucoma effort
• 15th century couple’s descendents propensity to glaucoma
• French law prevents the release of the info to prevent blindness
• Once symptoms appear it is too late to cure
• Circulating names that may be affected may lead to discrimination in hiring or
insurance
Mark Rothstein – medical privacy – an oxymoron
• Challenges to medical privacy are computerization and managed care
• In many jurisdictions video rental and credit cards have more legal protection than
medical records
Genetic exceptionalism
Robert bork – the challenges of biology for law

George annas – genetic privacy there ought to be a law

• 1. private info, 2. private relationships, 3. private decisions 4. private places
• Info, relationships and decisions all apply to genetic info
• Reasons genetic info should be private

Legal protections for medical genetic privacy

Constitutional law
Whalen v roe
• Whether or not names and addresses of all people with prescriptions to certain
drugs may be contained in a centralized computer system
• Schedule II drugs that are used for medical purposes but are potentially harmful
• Trying to avoid overdispensing of drugs
• 24 investigators have access to the files
o Only two investigations done
• Suit brought by patients, doctors and associations of physicians
o Argue that treatment will be declined by patients so they are not
stigmatized
o Argue this is violation of constitutionally protected zone of privacy
 Interest in disclosing matters, and decision making
o Making decisions about their vital care is affected by the statute
• Disclosures of medical information are often essential part of modern medical
practice
• The statute did not deprive the public of access to the drugs
 • This record does not establish an invasion of any right or liberty protected by the
14th amendment
Brennan concur
• Ny has long required that this info be supplied to officials on request
• State provides numerous safeguards

Stewart concur

B. legislation
RIELLY THE IMPACT OF GENETIC PRIVACY ACT ON MEDICINE
• GPA would add significant costs
• Too many samples would have to get consent from everyone
LEGISLATING PRIVACY: HIV EXPERIENCE

As of 2005 most states have enacted genetic privacy laws

• They typically contain the following
o 1. personal access to genetic info required: 2. informed consent required to
perform a genetic test or obtain, retain, or disclose genetic information 3.
define as personal property genetic information or dna samples and 4.
provide penalties for violations
HIPPA came out 2003 had to be in compliance
OFFICE FOR CIVIL RIGHTS, DEPT OF HEALTH AND HUMAN SERVICES,
SUMMARY OF THE HIPAA PRIVACY RULE
WHO IS COVERED BY PRIVACY RULE
• Any healthcare provider that transmits health information in electronic form
• Individual or group plans
What info is protected
• All individually identifiable health information
• Cannot disclose protected health info unless: as privacy rule permits or 2 as
individual who is the subject of the information authorized in writing
• Must disclose only in two situations: 1 to individuals that specifically requrest
access to ti and 2. to hhs
PERMITTTED USES AND DISCLOSURES without authorization of individual if
• 1. to individual
• 2. treatment payment and hco
• 3. opportunity to agree or object
• 4. incident to an otherwise permitted use and disclosure
• 5. public interst and benefit activities
• 6. limited set for purposes of research, public heath or health care operations

Class 5
Reproductive technology
Pelias article
• In vitro fertilization monitoring
• Gamete donation another way to avoid genetic problems
 o Have to check donors genetics
• Another way is preimplantation genetic diagnosis
o Examine dna of the embryo at early stage
o Can disgard embryos that have a deleterious gene
o From both parents
• Instead of in vitro can use gamete itrafallopian transfer

Genetic screening in the context of assisted reproduction

MINIMAL GENETIC SCREENING FOR GAMETE DONORS, APPROVED BY
BOARD OF DIRECTORS OF AMERICAN SOCIETY FOR REPRODUCTIVE
MEDICINE
• Outline of screening p 344
Liability in reproductive technology
Johnson v superior court of la county
• Claim the parties failed to disclose the sperm came from someone with family history
of kidney disease
• Issue: access to documents to discover issues relevant to case
• When they sold the sperm the buyers signed a document that said cryobank would
destroy all documents
o Donor would remain anonymous
• At time of donation the doctors learned that the donor’s mother and sister had the
kidney disease
• Civil procedure 2017 may obtain discovery regarding any matter not privileged
o Privilege does not exist if person does not consult for diagnosis or
treatment
• The agreement does not preclude disclosure of his identity under any circumstance
• This contract conflicts with the law to protect health and welfare of children
• The agreement is contrary to public policy and unenforceable
• In certain circumstances it is unreasonable for person to believe his identity would
never be disclosed
• The disclosure of john doe and his family’s medical history would be an invasion of
privacy
• Have to have compelling state interest to violate privacy
• Have to craft documents revealing important facts but protecting john doe’s identity
Harnicher v university of utah medical center
• Case for negligent infliction of emotional distress
• Mixed sperm wanted a donor who looked like the husband
• The kid did not look like the father
• Allege anxiety, depression, grief, and other mental and emotional suffering
o No bodily harm
• Blood type of the children could not have come from the father
• No physiological characteristics that make it difficult for them to cope

Genetic frontier: human cloning

IS THERE A RIGHT TO CLONE?
• Clones don’t have identical dna
• Option for couples where on has genetic defect
Would ban infringe right of scientific inquiry
• 1st amendment protects marketplace of ideas
• Courts have held that no right to undertake experiments especially on fetuses
• States may take action against constitutional right to protect health of people
• State has right to choose method by which to pursue knowledge
Right to make reproductive decisions
• Even if right to clone was recognized legislation that would infringe unduly upon
this right would be permissible if it were narrowly tailored to furthera compelling
state interest

PROHIBIT CLONING p358

Use of genetics and reproductive technologies for non-medical purposes

Sex selection
CLONE AGE
• Prenatal testing for sex selection
• 34% of geneticists said they would do screening for sex selection
Conceiving sibling to be a donor
Ferrell v rosenbaum
• Doctor did not review results of blood test and misdiagnosed
• They argue that if the baby was properly diagnosed they would have had another
child
• Two prong causation
o 1. that negligence was substantial factor in causing injury
o 2. the negligence interfered with alexis transplant from a sibling
Gene therapy, pharmogenetics and enhancement
Gene therapy
History of gene therapy
Science of gene therapy
• Gene therapy is Administration of dna to combat disease
AMERICAN MEDICAL ASSOCIATION COUNCIL ON ETHICAL AND JUDICIAL
AFFAIRS
• Somatic cell therapy – human cells other than germ cells are generally altered and
• Germ line therapy – replacement gene is integrated into the genome of human
gametes or their precursors
o Appropriate to limit germ line therapy
• Ama approval, patient consent and thorough investigation
POINTS TO CONSIDER IN THE DESIGN AND SUBMISSION OF HUMAN
SOMATIC-CELL GENE THERAPY PROTOCOLS

GENETIC RESEARCH AS THERAPY: IMPLICATIONS OF GENE THERAPY FOR

INFORMED CONSENT
 • Line between treatment and research has to be made clear
• Overly enthusiastic about gene therapy
• Language in the informed consent is important
Germ line therapy
• Somatic cell therapy – therapeutic interventions that do not affect reproductive
cells
o Goal is to treat the person’s children
• Germ line therapy – genetic interventions that affect the genetic material of
reproductive cells
o Goal is to treat the person
o Manipulation of germ cells or gametes
HUMAN GERM-LINE THERAPY: CASE FOR ITS DEVELOPMENT AND USE
• Somatic cell gene therapy treats existing pathology but cannot prevent the gene
from being passed
Arguments for use of direct genetic modification
• Med professionals should use best available means
• Direct intervention in the germ-line is necessary to prevent certain disorders
where screening won’t work
• Parents should be permitted to use this to have normal child
• Germ-line is more efficient than repeated use of somatic cell therapy in successive
generations
• Advances in medicine should not be impeded

Genetic enhancement
• Worry that these therapies will be targeted at nontherapeutic or enhancement
objectives
• Tough to define the two
• Also problematic due to how we define disease or disability
GORDON, GENETIC ENHANCEMENT IN HUMANS
• Equal access to such advanced medical technologies
• Since so many babies are born naturally each month any attempt to change the
path of mother nature would not make a huge impact
• No guarantee that genetically enhanced individuals would have a greater
biological fitness

PARENTAGE AND FAMILY LAW

Intro
• No longer presumable that woman who gave birth is the mother of a child
• If woman is married her husband is father of the child unless he proves otherwise
• When biological father is petitioning to gain rights to a child he has to show some
social connection
• Social values and biological predictions
Reassessing traditional presumptions of paternity in the dna era
Michael v Gerald d
• Man wants to prove paternity of child of woman who is married to another man
• Claim is that due process rights of man who wishies to establish paternity and the
constitutional right of child to maintain relationship with natural father
• Presumption that man living with woman is the father may only be rebutted only
if motion for blood tests is made within two years of the birth
• Court was allowed to grant visitation rights to any person having interest in the
child
o Court did not do this in order to avoid impugning the family unit
• Only father may rebut presumption of legitimacy
• Court chose to protect the integrity of the family over rights of biological father
• Based on 500 year old law that if you don’t disprove paternity due to impotence
or being abroad it’s yours
Lach v Welch
• Michael Welch died in car accident, mother is claiming she is necessary party to
paternity suit, and wants paternity test done
• Court finds the mother to be a necessary party to the suit bc of issues with
posthumist determinations
• Not conclusive to test just one parent
• Testing is allowed