Genetic counseling

Knowing which family members have inherited genetic variants is key to assessing individual and reproductive risk in genetic counselling.

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine.[1][2] The process integrates:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources
  • Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk[1][2]
  1. ^ a b Patch C, Middleton A (June 2018). "Genetic counselling in the era of genomic medicine". British Medical Bulletin. 126 (1): 27–36. doi:10.1093/bmb/ldy008. PMC 5998955. PMID 29617718.
  2. ^ a b Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL (April 2006). "A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report". Journal of Genetic Counseling. 15 (2): 77–83. doi:10.1007/s10897-005-9014-3. PMID 16761103. S2CID 25809385.

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