Genetics in Health care
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.
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Genetics for better Treatment-
With the availability of a myriad of genetic tests, Clinicians should be aware of
genomic tests that may affect the care of their patient population. Various Tests exist
to guide disease diagnosis, prognosis and susceptibility to drugs. Most of the
treatments for cancers (like Her2 testing in breast cancer) are now guided by results
of genetic testing for susceptibility to specific anti-cancer drugs.
Examples of CDC-funded evidence-based reports that guide genomic testing and
diagnostic strategies include-
Genomic Tests for Ovarian Cancer Detection and Management;
Testing for Cytochrome P450 (CYP450) Polymorphisms in Adults With Non-
Psychotic Depression Prior to Treatment With Selective Serotonin Reuptake
Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their
Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes;
Can UGT1A1 Genotyping Reduce Morbidity and Mortality in Patients With
Metastatic Colorectal Cancer Treated With Irinotecan?
DNA Testing Strategies Aimed at Reducing Morbidity and Mortality From Lynch
Family History Tools-
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
Cyrillic: Computer program for drawing pedigrees and linking data to other
Pedigree-Draw: Computer application for the creating, drawing, and editing of
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.
Public health genomics-
Good use of genetics includes a major role in planning public health initiatives. The
goals of public health genomics are to improve public health interventions for diseases
of major public health importance, including chronic, infectious, environmental, and
occupational diseases. Population-based epidemiologic studies are the basis for
estimating the absolute, relative, and attributable risks that gauge the effects of
genomic factors on the health of individuals and populations.
The patient and family members involved may have different perceptions of risk and
attitudes toward genetic testing. Information for one person often has medical
consequences for other related individuals, and healthcare providers must successfully
navigate this delicate arena to improve outcomes for everyone involved. A firm
understanding of genetics-based probability and risk assessment and the ability to
communicate clearly and effectively are important for all healthcare providers.
Continuing Medical Education in Genetics-
It is critical for practicing clinicians and public health professionals to maintain
genomic literacy by staying up-to-date on recent literature and applications in medical
genetics and genomics.
The CME program, developed by the American College of Preventive Medicine, is
designed to provide context, review the evidence, and explore both the potential and
realties of genetics in primary care medicine.
Handbook of genetics- Help Me Understand Genetics presents basic information
about genetics in clear language and provides links to online 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
GeneTests Web site, a publicly funded medical genetics information resource
developed for physicians, other healthcare providers, and researchers,
available at no cost to all interested persons
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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Genetics Home Reference crossword puzzle
Created February 2009
This crossword puzzle includes common terms and concepts used in human genetics. All of the answers can be
found in the Help Me Understand Genetics Handbook (http://ghr.nlm.nih.gov/handbook/).
1 2 3 4
6 7 8
A common form of aneuploidy in which each cell Humans have 23 pairs of these DNA-containing
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
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
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
chromosome breaks in two places and the ends of the most common type of genetic variation among people.
chromosome arms fuse together to form a circular
5 The basic physical and functional unit of heredity.
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.
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
The study of how genes affect a person’s response to The process that leads to the self-destruction of cells;
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