■ Duties and responsibilities:

Expectations of physicians in practice

Genetic testing — What are physicians’ options and obligations?

A woman using a mirror while inserting a mouth swab

7 minutes

Published: September 2013 /
Revised: November 2022

The information in this article was correct at the time of publishing
P1303-2-E

Genetic tests are widely available. It is now possible to test both adults and unborn children for a wide range of genetic conditions, predispositions, and gene carrier status. These tests can provide valuable information for making decisions about healthcare and family planning.

But, the availability of genetic tests can also present challenges to physicians. For example, it may be difficult for some physicians to decide when it is appropriate to recommend testing to patients. Patients may also seek medical advice or clinical interpretations of results obtained through direct-to-consumer (DTC) genetic testing. Genetic test results may also have broader implications than other medical test results, and providing information about health issues that a patient is likely to face in the future may be especially distressing to some individuals. In addition, the results of genetic tests may provide information that is relevant not just to the patient, but also to the patient's extended family.

Providing patients with information on genetic testing

Courts have examined the question of when a physician has an obligation to inform patients of the availability of a test in the context of prenatal genetic testing. In one case, the court found a physician liable for failing to advise a pregnant 36-year-old patient of the availability of prenatal genetic testing. The patient gave birth to a child with Trisomy 21 (Down's syndrome) and brought a claim against the physician. She alleged that had she been advised of the availability of the test, she would have taken it and would have terminated the pregnancy if the test revealed the child would be born with a genetic abnormality.

The court stated that the physician's general responsibility for the prenatal care of the patient includes providing advice about genetic testing and offering the test to pregnant patients according to existing practice guidelines, which in this case was 35 years of age or older. The physician was found negligent for failing to meet the standard of care. Damages were awarded to the parents for the cost of future care of the child.

There may be other situations in which physicians find it appropriate to notify their patients of genetic testing (i.e., when treating patients with a family history of Huntington's disease, breast cancer, or other genetic disorders). In raising the possibility, it may also be prudent for physicians to discuss the ramifications of a positive test result for patients and their families.

Direct-to-consumer genetic testing

DTC genetic testing can also create challenges for physicians. Amongst other things, there are limitations that may not apply to clinical genetic testing. The Canadian Medical Association’s (CMA) Policy on Direct-to-Consumer Genetic Testing [PDF] addresses some of these limitations.1They suggest generally avoiding recommending DTC genetic testing if the physician does not have a clear understanding of the validity and limitations of the test results. The policy further states that a physician who is presented with a patient’s DTC genetic test should advise the patient of the high variability in the validity and clinical utility of these results, and should assess whether the results warrant consultation with a specialist such as a medical geneticist.

When assessing whether the availability of genetic testing should have been discussed with a patient, courts will typically consider the prevailing standard of practice, among other things. Physicians should make reasonable efforts to remain current regarding the availability of genetic testing and the standards of practice.

Duty to warn family members

The results of genetic testing may also have important implications for the family members and the descendants of patients. As a result, physicians may feel a sense of obligation in some circumstances to have test results shared with family members. However, when patients do not agree, the disclosure of test results to others might conflict with physicians' duty of confidentiality to their patients.

It is sensible for a physician to make efforts to see that family members are informed of relevant test results. When obtaining informed consent for the genetic test, and once the test results are received, physicians may consider discussing with the patient the importance and possible impact of the test result on other family members. The physician can suggest to their patient that the information be shared, and offer to meet with the family to answer any questions. However, if the patient refuses to disclose the information or permit the physician to disclose it, in most circumstances the physician's duty of confidentiality to the patient will have priority over any obligation to family members.

While typically the duty of confidentiality will have priority, it remains possible that a duty to warn might arise in different and unique circumstances. In general, privacy legislation allows the disclosure of personal health information about an individual without their consent to avert an imminent risk of serious bodily harm to an identifiable person or group. This type of disclosure imposes a high threshold, as the risk must be serious, imminent, and must target an identifiable person or group. Advising of the risk also has to be reasonably likely to avert or limit the risk. The warning would typically only avert the risk if early diagnosis and treatment of the genetic condition would be significantly more effective than treatment when symptoms first occur.

In rare situations in which a physician feels that disclosure of a test result may be warranted, it would be advisable to discuss the issue with the patient in an attempt to obtain consent. If it is not possible to obtain the patient's consent, or if the patient refuses to provide consent, physicians are encouraged to contact the CMPA to obtain advice about whether the disclosure is justified and, if so, how best to manage the disclosure to minimize the risk to the physician and the impact on the patient.

The bottom line

  • When to offer genetic testing to patients is determined by the circumstances of each case and the applicable standards of practice at the time.
  • Physicians should consider talking to their patients about how genetic test results might affect families and, when appropriate, encourage them to share the information with family members.
  • Physicians will generally not be permitted to disclose their patient's genetic test results without patient consent unless there is a serious, imminent risk of harm that can be averted through knowledge of the test result.

Reference

  1. CMA Policy: Direct-to-consumer genetic testing. Ottawa: The Canadian Medical Association, 2017 May 27 [cited 2022 Oct 20]. Available from: https://policybase.cma.ca/link/policy13696

DISCLAIMER: The information contained in this learning material is for general educational purposes only and is not intended to provide specific professional medical or legal advice, nor to constitute a "standard of care" for Canadian healthcare professionals. The use of CMPA learning resources is subject to the foregoing as well as the CMPA's Terms of Use.