Genetics In Healthcare

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. 2. 3. 4. 5. 6. 7.

Newborn screening Diagnostic testing Carrier testing Prenatal testing Preimplantation testing Predictive and presymptomatic testing 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 TreatmentWith 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 NonPsychotic Depression Prior to Treatment With Selective Serotonin Reuptake Inhibitors (SSRIs); Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications; 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 Syndrome.

Family History ToolsMost 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;

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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.

Public health genomicsGood 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. CounselingThe 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 GeneticsIt 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.

Additional resources

Handbook of genetics- Help Me Understand Genetics presents basic information about genetics in clear language and provides links to online resources.

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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

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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

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. Blogger

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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

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Across A common form of aneuploidy in which each cell 3 contains one extra chromosome. In autosomal ____ inheritance, two mutated copies of 6 the gene are present in each cell. An organism’s complete set of DNA, including all of 9 its genes. This type of chromosome abnormality occurs when a chromosome breaks in two places and the ends of the 11 chromosome arms fuse together to form a circular structure. These complex organelles convert energy from food into a form that the cell can use. They also have their 12 own genetic material, separate from the DNA in the nucleus. A permanent change in the DNA sequence that makes 14 up a gene. Mutations that occur only in an egg or sperm cell, or 15 those that occur just after fertilization, are called de_____ mutations. The study of how genes affect a person’s response to drugs. The type of mutation that results in the substitution of 18 one amino acid for another in the protein made by a gene. This chemical cousin of DNA is critical for the process 19 of transcription. 17

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Down Humans have 23 pairs of these DNA-containing structures in each cell. The type of cell division that creates egg and sperm cells. Gene ___ is an experimental technique that uses genes to treat or prevent disease. A difference in a single DNA building block; also the most common type of genetic variation among people.

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The basic physical and functional unit of heredity.

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The part of the Human Genome Project that identified and addressed issues raised by genomic research that would affect individuals, families, and society.

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DNA stands for _____ acid.

This occurs when the signs and symptoms of a genetic condition become more severe and appear at an earlier 10 age as the disorder is passed from one generation to the next. The process that leads to the self-destruction of cells; 13 also known as programmed cell death. An international scientific effort to identify common 16 genetic variations among people: The International ____ Project.