Professional Documents
Culture Documents
As direct-to-consumer genetic and genomic tests become more ubiquitous, the role of
medical and health professionals in fully harnessing the powers of this powerful tool
increases. Many direct-to-consumer products and services are already available, such
as 23andMe and Navigenics®, which provide quite a bit of information on disease risk
and traits but relatively few details in terms of how this information should be
interpreted or its clinical relevance. Besides, genetic tests for many diseases are
developed on the basis of limited scientific information and may not yet provide valid
or useful results to individuals who are tested.
Different types of genetic tests in the market include,
1. Newborn screening
2. Diagnostic testing
3. Carrier testing
4. Prenatal testing
5. Preimplantation testing
6. Predictive and presymptomatic testing
7. Forensic testing
Clinicians must understand and be able to explain to patients which test results are
clinically relevant and which are merely unsubstantiated claims. Public health leaders
and other healthcare providers too need to understand their role in this environment.
It is a continuously evolving field and requires knowledgeable people to separate facts
from fiction and guide proper interpretation of the test results.
Most chronic diseases are a result of genetics and environment. Family members share
genes, behaviors, lifestyles, and environments that together may influence their
health and chronic disease. The basest understanding of genetics is the use of family
history tools to predict disease patterns. These tools document medical risks and risks
in relation to family members, including genetic risk, exposures, and behavioral,
social, and cultural information
OPHG started the Family History Public Health Initiative in 2002 to increase awareness
about family history as an important risk factor for common chronic diseases such as
cancer and diabetes mellitus, and to promote the use of family history in programs
aimed at reducing the burden of these diseases in the US population. Several family
history tools exist and may be quickly and easily utilized by public health and primary
care providers and patients:
American Medical Association: Family History Tools: Website with tools
including “Prenatal Genetic Screening Questionnaire,” “Pediatric Clinical
Genetics Questionnaire,” and “Adult Family History Form”;
Centers for Disease Control and Prevention: Website with family history tools
and resources;
Cyrillic: Computer program for drawing pedigrees and linking data to other
genetics programs;
Pedigree-Draw: Computer application for the creating, drawing, and editing of
pedigrees;
Progeny: Lab management software for collection of genetic data;
US Surgeon General’s Family History Initiative: “My Family Health Portrait”:
Web-based tool for patients to organize family history and to share with
healthcare providers and family members.
Additional resources-
The manual of Genetics- The New England Genetics Guide for Patients and
Health Professionals, produced as a partnership between the Genetic Alliance
and the New England Public Health Genetics Education Collaborative
Compiled by
Dr.Neelesh Bhandari
M.B.B.S (AFMC), M.D (Path), P.G.P in Human Rights
Advisor (Medical Communications) Mark IV Medical Communications LLC..
Chief Mentor( RAKSHA)Registered society for knowledge and health activities.
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Across Down
A common form of aneuploidy in which each cell Humans have 23 pairs of these DNA-containing
3 1
contains one extra chromosome. structures in each cell.
In autosomal ____ inheritance, two mutated copies of The type of cell division that creates egg and sperm
6 2
the gene are present in each cell. cells.
An organism’s complete set of DNA, including all of Gene ___ is an experimental technique that uses genes
9 3
its genes. to treat or prevent disease.
This type of chromosome abnormality occurs when a A difference in a single DNA building block; also the
4
chromosome breaks in two places and the ends of the most common type of genetic variation among people.
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chromosome arms fuse together to form a circular
5 The basic physical and functional unit of heredity.
structure.
These complex organelles convert energy from food
The part of the Human Genome Project that identified
into a form that the cell can use. They also have their
12 7 and addressed issues raised by genomic research that
own genetic material, separate from the DNA in the
would affect individuals, families, and society.
nucleus.
A permanent change in the DNA sequence that makes
14 8 DNA stands for _____ acid.
up a gene.
This occurs when the signs and symptoms of a genetic
Mutations that occur only in an egg or sperm cell, or
condition become more severe and appear at an earlier
15 those that occur just after fertilization, are called 10
age as the disorder is passed from one generation to the
de_____ mutations.
next.
The study of how genes affect a person’s response to The process that leads to the self-destruction of cells;
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drugs. also known as programmed cell death.
The type of mutation that results in the substitution of An international scientific effort to identify common
18 one amino acid for another in the protein made by a 16 genetic variations among people: The International
gene. ____ Project.
This chemical cousin of DNA is critical for the process
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of transcription.