Genetics (Peace)

Genetics (Peace) - 10/09/201015:10:00

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10/09/2010 15:10:00 Genetic  counseling:  the process of helping ppl understand and adapt to the  medical, psychological and familial implications of genetic contributions to disease.  Integrates: o interpretation of family and medical histories to assess the chance of  disease occurrence or recurrence o education about inheritance, testing, mgmt, prevention, resources and  research o counseling to promote informed choices Genetic counseling process o pedigree construction  o records review  o counseling pt o test recommendations prn o follow-up Indications (why see a genetic counselor?)  o family history of known genetic disorder o family history of a possible genetic disorer (i.e cancer) o personal history of genetic disorder Genetic screening:  Testing ppl to determine who is at risk of developing or transmitting  a particular disease in order to see or prevent disease
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Criteria for screening:  o Disease should be severe o A high-risk pop can be identified  o There is an inexpensive, sensitive and specific test for the disease or  carrier state o More specific tests can confirm or rule our the diagnosis or carrier state o Realistic and effective intervention is possible for those affected Principles of screening o Equal access o Absence of compulsion o Protection of subjects (confidentiality, privacy) o Privacy and access of info o Positive analysis and community involvement Issues in carrier screening o Cost vs. benefit of screening (early detection must cost less than  treating disease later on) o Availability of pre- and post- test counseling o Genetically heterogenous diseases (caused by a variety of diff things –  not just one gene or disorder involved) o Genes with too many mutation to screen for o Inadequate genotype-phenotype correlation
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Carrier Screening by Ethnicity
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Genetics (Peace) - 10/09/201015:10:00

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