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Is At-Home Genetic Testing in the Best Interests of the Individual?

by G. Richard Holt, MD, MSE, MPH, MABE, D Bioethics • July 11, 2017

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Clinical Scenario

You are seeing a long-time patient of yours, a 52-year-old male, who has experienced fluctuating vocal weakness for several years. He is a medical device salesman with ample opportunity for vocal usage. In your past examinations, you have noted some subtle weakness of glottic closure with soft vocalization, but no other worrisome findings. The patient has also related over the years that his jogging pace has slowed down, which he had felt was commensurate with his overall physical aging. Today’s examination reveals no new information or findings, but you note that the patient appears to be concerned about something, appearing more serious than usual, and you inquire about what is bothering him.

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Explore This Issue
July 2017

The patient explains that he has recently become concerned—after researching his symptoms online—that he may have early Parkinson’s disease, given the vocal weakness and his jogging sluggishness. He has become convinced that he is experiencing the early onset of this disease, and without consulting his primary care physician or you, he has ordered, and submitted, a home genetic testing kit to determine whether he has a genetic marker for Parkinson’s disease.

He is now “worried sick” about the forthcoming results and wants you to explain to him how this genetic testing works. Clinically and historically (no history in his family), you believe Parkinson’s disease is a consideration, albeit low, at this time. You really have not taken the time to learn much about the risks and benefits of “direct-to-consumer genetic testing,” so you feel ill prepared to counsel him. You are especially concerned about the ethical implications of individuals receiving this information without any context that might help them to understand the results. How should you respond to the patient?

How would you handle this case?


Discussion

© Henrik Dolle / shutterStock.com

© Henrik Dolle / shutterStock.com

Genetic testing for the determinants of cleft lip and palate risk for parents with the disorder, or with one affected child, has been a vital component of craniofacial anomalies family counseling. Following the completion of the Human Genome Project in 2003, the consumer’s capability to acquire vast information on personal genetic data has burgeoned. While the identification of medically important genetic information has opened the door to the salutary promise of personalized medical care and furthered the exploration of genetically linked diseases and disorders, ethical and moral concerns accompany this progress. As with technological advances such as in vitro fertilization, questions of an ethical nature must be addressed.

Pages: 1 2 3 4 | Single Page

Filed Under: Departments, Everyday Ethics, Home Slider Tagged With: at-home genetic testing, Ethics, genetic testing, patient consentIssue: July 2017

You Might Also Like:

  • Genetic Testing for Hearing Loss
  • CMS Reimburses Sleep Apnea CPAP Treatment When Diagnosed with Home Testing
  • Otolaryngology Research Increasingly Supports Genetic Screening to Evaluate Pediatric Hearing Loss
  • Limited Data Available on Genetic Drivers of HNSCC in Low- Risk Patients

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