Cases in Precision Medicine: When Patients Present with Direct-to-Consumer Genetic Test Results
| Autor: | Deborah F. Stiles, Krzysztof Kiryluk, Michael G. Artin, Wendy K. Chung |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Genetic counseling Genetic Counseling 01 natural sciences Article 03 medical and health sciences 0302 clinical medicine Direct-To-Consumer Screening and Testing Internal Medicine Humans Medicine Medical physics Genetic Testing 030212 general & internal medicine Precision Medicine 0101 mathematics Genetic Privacy Genetic testing Physician-Patient Relations medicine.diagnostic_test business.industry Genetic Carrier Screening 010102 general mathematics General Medicine social sciences Precision medicine Popularity humanities Test (assessment) behavior and behavior mechanisms Female Preconception Care business |
| Zdroj: | Ann Intern Med |
| Popis: | A couple is planning to start a family. The husband is 25 years old and Ashkenazi Jewish and has heard he could pass on “Jewish diseases” such as Tay-Sachs to his children. His wife, who is also 25 years old and Latina, is worried because her mother and grandmother both developed breast cancer in their early 40s. They decide to order a 23andMe test after reading about the carrier screening testing and the new BRCA1/2 test. After receiving the results, the wife is relieved to find out that she tested negative for BRCA1/2. However, they are concerned to learn that the husband is a carrier for Gaucher disease type 1 and the wife is a carrier for cystic fibrosis, although they know of nobody in their families with either of these conditions. The husband is also shocked to discover that he has two copies of the ε4 variant in the APOE gene and is now worried about his risk of developing Alzheimer’s disease. They bring the test results to their internist for advice on how to proceed. |
| Databáze: | OpenAIRE |
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