Facing Life With a Lethal Gene

The test, the counselor said, had come back positive. Katharine Moser inhaled sharply. She thought she was as ready as anyone could be to face her genetic destiny. She had attended a genetic counseling session and visited a psychiatrist, as required by the clinic. She had undergone the recommended neurological exam. And yet, she realized in that moment, she had never expected to hear those words.
Ms. Moser was 23. It had taken her months to convince the clinic at NewYork-Presbyterian Hospital/Columbia University Medical Center in Manhattan that she wanted, at such a young age, to find out whether she carried the gene for Huntington’s disease.
Huntington’s, the incurable brain disorder that possessed her grandfather’s body and ravaged his mind for three decades, typically strikes in middle age. But most young adults who know the disease runs in their family have avoided the DNA test that can tell whether they will get it, preferring the torture — and hope — of not knowing.
Ms. Moser is part of a vanguard of people at risk for Huntington’s who are choosing to learn early what their future holds. Facing their genetic heritage, they say, will help them decide how to live their lives.
Yet even as a raft of new DNA tests are revealing predispositions to all kinds of conditions, including breast cancer, depression and dementia, little is known about what it is like to live with such knowledge.
{Many people are unwilling to take genetic tests, knowing that afterwards they might not be able to get a job or health insurance. The woman in this story was warned about these consequences but still chose to be tested for Huntington’s Chorea. First, Congress should require informed consent before genetic test results are disclosed to physicians who are actually treating the affected individuals. Second, genetic test results should never be disclosed to insurers, employers, or the other 600,000 health-related businesses and government agencies that are currently granted access to Americans’ complete personal health information by HIPAA, even with consent. Genetic records in particular should never be disclosed to anyone other than physicians, because the results can be used to discriminate against the children, families, and other relatives of those who take genetic tests. No one should be able to give consent to disclose or use genetic or other sensitive personal health information that can harm someone else’s life or opportunities in life. ~ Dr. Deborah Peel, Patient Privacy Rights}

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