Safety of care

Improving patient safety and reducing risks

Direct-to-consumer genetic test results: Be prepared

Originally published June 2017

Direct-to-consumer genetic testing is now available in Canada and some healthcare providers have expressed concerns about the tests. Some have questions about the value of the tests for their patients and the need to assist patients in interpreting the results.1-4

While this new direction in genetic testing can be challenging for physicians, the best approach to caring for patients who have engaged in direct-to-consumer (DTC) genetic testing is to continue practising sound medicine. In these circumstances that means being respectful of patients’ rights to make autonomous decisions about their health, taking the time to consider the DTC genetic test results, providing care within the limits their knowledge, seeking a consult with a specialist in genetics when appropriate, and documenting discussions with patients about DTC test results and any recommended treatment.

Physician- vs. consumer-driven tests

Most physicians are familiar with ordering genetic tests for their patients to identify "a predisposition to illness, the prognosis of disease, and potential responses to certain medications."5 These tests are usually conducted through the public healthcare system and have had some quality assurance analysis before being put into place.6

In contrast, the genetic tests offered by commercial companies are marketed directly to individuals without needing to consult with a healthcare professional. Consumers can go to a website, order a personal testing kit, return the kit to the company with a saliva or blood sample or both, and then obtain personalized results.

The DTC companies’ test results may include reports for numerous health conditions and genetic traits, information about inherited risk factors, and responses to certain medications. In some cases, "customer’s results may include individualized risk assessments for single-gene disorders, like cystic fibrosis, as well as complex multifactorial diseases like cardiovascular disease. Risk is assessed by comparing an individual’s genetic make-up against population data."5

Some companies may include genetic counselling for patients with the initial purchase or offer it as an extra at an additional cost. Most of the companies suggest consumers discuss their test results with their physician.1

Physicians’ concerns

DTC genetic testing raises a number of considerations for patients, physicians, and the healthcare system.

The DTC genetic test results can be difficult for patients to interpret, and the commercial companies suggest patients share their results with their primary care physician. Accordingly, patients who want to understand the results of their genetic test will likely turn to their family physicians for assistance.

Interpreting the DTC test results can be challenging for any physician. Family physicians will, therefore, want to consider whether it is necessary to refer patients to genetic specialists.2 Patients may also be dissatisfied with their physician’s care if they decline to integrate the test results into the patient’s overall care.3

Physicians may face challenges in managing patients’ expectations in circumstances where the results show a patient’s predisposition to a condition for which there is little or nothing that can be done to prevent or treat the illness.1

The impact of DTC genetic testing on the already under-resourced healthcare system is also an important consideration. Scarce physician time and additional investigations may be required to follow-up on the genetic test results generated by commercial companies.

The validity of the DTC genetic test results has also raised concerns among healthcare providers. It is uncertain whether the labs that are conducting the genetic testing for these commercial companies are accredited.4 There have been reports that identical DNA samples sent to different DTC testing companies have come back with different results.4

How to respond to patients with DTC test results

Physicians’ best approach for appropriately dealing with DTC genetic testing issues is to continue practising sound medicine and follow any applicable standards of care established by the profession.

To begin, "physicians should respect patients’ autonomy, health goals, and treatment decisions. Patients have the right to make decisions about their health in accordance with their values and preferences," including the right to pursue services such as DTC genetic testing.7

If patients ask for an interpretation of their DTC genetic testing results, physicians should always answer professionally and within the limits of their knowledge, skill, and judgment. Physicians should not arbitrarily dismiss patients’ DTC genetic test results as there could be a possibility these results may trigger further investigations. Dismissing the results without clinical justification may lead to patient harm and expose physicians to medical-legal risks. For instance, if test results do suggest a possible risk that warrants further investigation, and the patient’s physician does not investigate, the physician may face a College investigation or legal action. In these situations, the physician would likely be asked to justify how the suggested risk was managed.8

Some physicians may not feel confident in their ability to interpret and counsel patients on their DTC genetic test results. In these cases, physicians should generally consult with or make a referral to a specialist in genetics. In fact, physicians have an obligation to refer or consult when the required counselling is beyond their competence or experience.9

Finally, physicians should document in the health record any discussions about DTC genetic test results and the rationale behind any follow-up investigations and treatment decisions related to those results.

The bottom line

Physicians who are asked by patients to provide counselling or treatment based on DTC genetic test results should respond by continuing to practise sound medicine and by meeting the profession’s standards of care. Practising sound medicine means physicians should:

  • respect their patients’ right to make autonomous decisions in looking after their health
  • don’t ignore the DTC test results—take the time to consider their potential implications
  • provide care that is within the limits of their knowledge
  • ask for a consult with or make a referral to a specialist in genetics if appropriate
  • document discussions with patients about DTC test results and any recommended treatment


  1. Born K, Sullivan T. Direct-to-consumer genetic testing comes to Canada [Internet]. Healthy debate (Toronto). 2011 Mar 23 [cited 2016 Aug 10], 3 screens. Available from:
  2. Royal College of Pathologists of Australasia (RCPA), Human Genetics Society of Australasia (HGSA). Pathology, The facts. What should I know about direct-to-consumer genetic testing? [Internet]. Surry Hills (NSW): Royal College of Pathologists of Australasia (RCPA), Human Genetics Society of Australasia (HGSA); [cited 2016 Aug 10] 3 p. Available from:
  3. Consumer perceptions may influence satisfaction with physician discussion of DTC genetic testing results. Genomeweb (New York). 2016 Mar 1: [Internet]. Available from:
  4. Allen L, Hamidi M, Argintaru N. Direct-to-consumer genetic testing in Canada [Interent]. UWOMJ – University of Western Ontario Medical Journal [Internet]. 2011 spring [cited 2016 Aug 10];80(1); 15-16. Available from:
  5. Doctors of BC. Policy Statement: Direct-to-consumer genetic testing (DTC GT) for health purposes [Internet]. Vancouver (BC): 2015 Sept. [cited Aug 10] 3 p. Available from:
  6. Caulfield T, Ries NM, Ray PN, Shuman C, Wilson B. Direct-to-consumer genetic testing: good, bad or benign? Clin Genet [Internet]. 2010 Feb [cited 2016 Aug 10];77(2):101-5. Available from: doi: 10.1111/j.1399-0004.2009.01291.x.
  7. Canadian Medical Protective Association. Alternative medicine — what are the medico-legal concerns? [Internet]. Ottawa (ON): 2012 Mar [cited 2016 Aug 10]. Available from:
  8. Canadian Medical Protective Association. Managing information to deliver safer care [Internet]. Ottawa (ON): 2013 Dec [cited 2016 Aug 10]. Available from:
  9. Canadian Medical Protective Association. Common medico-legal questions asked by members. [Internet]. Ottawa (ON): 2013 Aug [cited 2016 Aug 10]. Available from:

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.