tailieunhanh - Chapter 064. The Practice of Genetics in Clinical Medicine (Part 6)

Follow-Up Care after Testing Depending on the nature of the genetic disorder, posttest interventions may include (1) cautious surveillance and appropriate health care screening, (2) specific medical interventions, (3) chemoprevention, (4) risk avoidance, and (5) referral to support services. For example, patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of prophylactic mastectomy and oophorectomy. In addition, such women may be eligible for preventive treatment with tamoxifen, or enrollment in a chemoprevention clinical trial. In contrast, those at known risk for Huntington's disease are offered continued follow-up and supportive services,. | Chapter 064. The Practice of Genetics in Clinical Medicine Part 6 Follow-Up Care after Testing Depending on the nature of the genetic disorder posttest interventions may include 1 cautious surveillance and appropriate health care screening 2 specific medical interventions 3 chemoprevention 4 risk avoidance and 5 referral to support services. For example patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of prophylactic mastectomy and oophorectomy. In addition such women may be eligible for preventive treatment with tamoxifen or enrollment in a chemoprevention clinical trial. In contrast those at known risk for Huntington s disease are offered continued follow-up and supportive services including physical and occupational therapy and social services or support groups as indicated. Specific interventions will change as translational research continues to enhance our understanding of these genetic diseases and as more is learned about the functions of the gene products involved. Individuals who test negative for a mutation in a disease-associated gene identified in an affected family member must be reminded that they may still be at risk for the disease. This is of particular importance for common diseases such as diabetes mellitus cancer and coronary artery disease. For example a woman who finds that she does not carry the disease-associated mutation in BRCA2 previously discovered in her family must be reminded that she still requires the same breast cancer screening recommended for the general population. newpage Genetic Counseling and Education Genetic counseling should be distinguished from genetic testing and screening even though genetic counselors are often involved in issues related to testing. Genetic counseling refers to a communication process that deals with human problems associated with the occurrence or risk of a genetic disorder in a family. Genetic risk assessment is complex and often .