■ Duties and responsibilities:

Expectations of physicians in practice

Genetic testing — New options, new obligations

7 minutes

Published: September 2013 /
Reviewed: September 2018

The information in this article was correct at the time of publishing

In recent years genetic tests have become increasingly 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 increasing availability of genetic tests can also present new challenges to physicians. For example, it may be difficult for some physicians to decide when it is appropriate to recommend testing to patients. Genetic test results may also have broader implications than other medical test results. Providing information about health issues that a patient is likely to face in the future may be distressing to some individuals. As well, this is the type of information that could affect eligibility for life insurance. 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.

What are physicians' duties in the face of rapidly growing numbers of genetic tests? When should genetic tests be offered to patients? What are physicians' obligations when test results have serious implications for patients' extended family members?

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 might find it appropriate to notify their patients of genetic testing. For example, when physicians treat patients with a family history of Huntington's or breast cancer, it may be appropriate to discuss the option of genetic testing. 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.

The courts will consider the prevailing standard of practice, among other things, when determining whether the availability of genetic testing should have been discussed with a patient. Physicians should make reasonable efforts to remain current regarding the availability of genetic testing and the standards of practice. This will help ensure patients are provided with appropriate information when family history, age, health, and plans for the future indicate.

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.

An exception to this general principle might arise in limited circumstances in which the physician has a duty to warn family members of potential genetic risks. The recent case in Québec of Watters v. White and Trossman, considered whether a physician was liable for failing to warn extended family members after a patient was diagnosed with a genetic disorder that was likely transmissible to future generations. While the trial court found the physician liable for failing to warn family members, the Court of Appeal overturned the decision and found that the physician was not negligent in failing to warn the extended family.

At the time of the diagnosis in 1970, the physician spoke to his patient's father about the important implications of the diagnosis for the extended family, suggested he pass the information on to the family, and offered to meet with family members for further discussion. The physician, however, did not confirm that the information was passed on to family members. Thirty-two years later, a member of the extended family gave birth to a child with the same disorder. The family brought an action against the physicians who were aware of the diagnosis but failed to warn other family members of the risk of conceiving children with the same genetic condition. Family members claimed that, had they been warned, steps would have been taken to avoid giving birth to children who were at risk of the same disease. The Court of Appeal found that the physicians acted reasonably and that, in these specific circumstances, they had no duty to warn the extended family.

Although in this case, the Court found no duty to warn, it would still be 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 requirement poses a high threshold, namely the risk has to be serious, imminent, and target an identifiable person or group. Advising of the risk also has to be reasonably likely to avert or limit the risk.

In rare situations, the risk posed by not sharing the results of a genetic test may meet these criteria. However, in many cases, the lack of knowledge of a genetic risk will not pose an imminent threat to an individual since it is difficult to know when or if a genetic predisposition will be realized. It is also likely that, in many cases, warning the individual of a risk will not avert the risk, primarily because the medical predisposition is the same regardless of whether the individual has knowledge of it. 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.1

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.


  1. Gold, Jennifer L., "To Warn or Not to Warn? Genetic Information, Families, and Physician Liability," McGill Journal of Medicine (2004) Vol. 8, p.72-78

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.