More to Read

For further information, consult these

journals:

Clinical Genetics (International Journal of Genetics,

Molecular and Personalized medicine)
BMC Cancer
American Journal of Medical Genetics
BMC Genomics
Human Genome Variation Society

Understanding the future of genetic

medicine
Knudson
UWRT 1103-004

Is Genetic
Medicine
Right for You
and Your
Family?

UNDERSTANDING THE FUTURE OF

GENETIC MEDICINE
By: Ehrin Yates

What is Genetic
Medicine?
Genetic medicine is a branch of medicine in which an
individuals genes are analyzed in various ways to look for
variations and yield predictions about predispositions to
disease and/or to determine current disorders and diseases.
A gene is a unit of code located within the DNA which
functions as a sort of instruction for the body and is passed
from parent to child in a unique combination. No one
persons genome is like another. Due to the unique nature of
an individuals genome, the combination of variants they
may possess is also unique and results in different
susceptibilities to disease and responses to different
treatment types.
Genetic tests provide probabilities rather than definite
outcomes because genes are affected by environmental
factors as well as heritability. Many believe that accurate
predictions of disease and treatment responses can allow for
a more positive outcome overall due to a more individualized
approach to prevention and treatment of disease as well as
an increased quality of life. It is agreeable that early
intervention is crucial to conquering many diseases such as
breast cancer. With the ability to identify disease causing
genes such as BCRA1 and BCRA2 for breast and ovarian
cancers, there are a number of preventative actions that can
be taken if necessary which may enable individuals to avoid
the disease all together.
Primary care doctors, geneticists, genetic counselors, and
other specialists collaborate, each holding a different role, to
best assess patient needs and determine which tests, if any
will most improve the patients health. Advancements in
testing, while still ongoing, are enabling better risk
management and targeted treatment.

Possible Concerns
Discrimination Based on Genetic
Information and Test Results
Many people worry about being
discriminated against by future
employers, insurance companies,
and others because of results
obtained from genetic testing.
However, this information is
protected by the Genetic
Information Nondiscriminatory Act
passed in 2008.

Costs of Genetic Medicine and Tests

Although the use of genetic medicine and
testing can be expensive, findings can
increase lifespans and improve the quality
of life for many. There are cases where
diseases can be avoided all together
because of genetic medicine. Research is
currently being focused to reduce the cost
of genetic medicine. Costs are projected to
decrease steadily and patients should keep
in mind that it is hard to make such new
innovations inexpensive when they are first
put to use.

Accuracy of Genetic Medicine

Since genetic medicine is

they may not be able to de
important decisions about
Genomic Applications in Pr
evaluating genetic tests al

With time, genetic medicine should be integrated into

general medicine so that most patients will be able to have
their genomes sequenced as a common procedure during a
doctors visit so that unnecessary and painful procedures can
be avoided where possible. With genetic medicine as a part
of future medicine, lives will be saved and patients will
5

Pros and Cons of DTC

Testing

Benefits of Genetic
Medicine

DTC (Direct to Consumer) testing is becoming a more

popular method for everyday people to test their DNA.
Typically, you order a kit online from a company, then send
back a sample of your DNA such as saliva. After this, you can
obtain information about your genome, such as risks for
potential disease. Companies include 23 and Me, Ancestry
DNA, Gene by Gene, and others.

Early Assessment, identification, and

intervention
Predictions of disease can be
determined before symptoms are
present and can reduce overall cost of
dealing with a disease because of
preventative methods. Genetic
medicine has provided discoveries of
causative genes for disorders which
have previously had no visible
justifications. Breast cancer causing
genes BCRA1 and BCRA 2 can now be
detected and their severity
determined through genetic testing. In
cases where cancer is seen to be
almost inevitable, double
mastectomies can prevent the cancer
all together.

Pros

Less expensive than genetic testing performed in

office by medical professionals
Supports opinion that individuals have the right to the
knowledge of their genetic makeup.

Cons

There is typically no genetic counseling offered with

DTC genetic testing.
Accuracy of results from this type of testing has not
yet been determined and are usually very broad.

Targeted treatment plans and

individualized medical care
Advancements in genetic medicine
have allowed medical professionals to
prescribe medications which are
better suited to an individual based on
their genetic makeup. The
effectiveness of medication regarding
disease is incredibly important for a
positive treatment plan and healing of
a patient. For example, cystic fibrosis
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Types of Genetic
Testing

Genetic Counseling

Diagnostic Testing- This type of testing is

used to try and identify mutations for cancers

which run in a family. There are four types of this
test and three possible outcomes.
1. Single Gene Testing-This is the entire sequence of a
single gene and is time consuming and expensive.
2. Multiple Gene Testing Panels- This is used often, where
multiple genes are examined and certain groups are
targeted.
3. Founder Mutation Testing- This test is conducted when
an individual is of a certain ethnicity where a disease
is of high incidence.
4. Testing an unaffected individual- This is very rarely
done, when there are no affected relatives available to
test.
Outcomes:
1. Pathogenic Mutation detected- This result
usually resolves the question about the cause
of cancer in a family. With this, testing is then
offered to relatives to look for the mutated
gene. This result also enables targeted cancer
treatment.
2. No Pathogenic Mutation detected- When this
test result is obtained, testing is not offered to
relatives because there isnt a known gene to
look for. This result can often be disappointing
because the patient feels as though they
havent received any answers.
3. Variant of Unknown Significance- This result is
obtained when a variation in a gene is found,
but has an unknown effect and cannot be
determined to be the causative gene.

Genetic counseling is extremely important in the field of

genetic medicine, especially because many discoveries are
still being made and it can be extremely hard to navigate
through the process for a patient on their own. Genetic
counselors help to educate patients and their families and
address any concerns they may have throughout the whole
testing process, from pre-testing to post-testing. They
promote informed choices about testing and steps they can
take once results are obtained. They facilitate informed
consent throughout the process, which can change with
patient attitudes about testing and disclosure, while
maintaining confidentiality. Studies show that patients
experience short-term anxiety while coping with results, but
many feel better once they fully understand what the results
mean and what they can do to improve their health. Genetic
counseling can be difficult, especially when results may
impact future family plans such as reproduction or when the
a child is dealing with the process of testing. Many patients
feel more comfortable knowing that they have a
knowledgeable professional presenting information, choices
and helping to guide them through difficult decisions.
3