A patient lies on a bed, her abdomen exposed and ready for a first trimester ultrasound. The sonographer tells her that there’s a blood test she can have that will tell her the baby’s sex and “whether the baby has any genetic abnormalities.” She can have the blood drawn that day. Does she want the test? The patient murmurs “Okay.”

A patient with a family history of cancer has a genetic counseling appointment over the phone, using an interpreter. Collecting a family history takes more than an hour. The counselor provides clear and accurate information. He arranges to send the consent paperwork and schedule the appointment for the blood draw. The patient makes no objection, but at no point does the counselor ask if she wants the test.

These situations are far from unique in genetic counseling. Both leave me with the same question: did these patients give true consent for their testing?

Informed and Affirmative Consent

Informed consent is a bedrock of medical practice, and rightly so. The Consent and Disclosure Recommendations (CADRe) workgroup of the Clinical Genome Resource Project identified a core set of “necessary and critical” concepts that patients must understand to give informed consent for genetic testing (Ormond et al., 2021):

• that testing is voluntary;
• why the test is being done, what it tests for, and what its limits and potential results are;
• how the results could change prognosis or care;
• potential effects on family members; and
• who will get the results. 

We can all agree that the first patient I described could not give informed consent. Not only did the information she received fall far short of these “necessary and critical” components, it was simply incorrect. But what about the second patient? The information she received likely met the criteria for informed consent. However, I argue that she did not truly consent because she was not asked. In the genetic counselor’s judgment, she wanted the testing. He may not have been wrong in that judgment, but he never asked. She would, of course, have the chance to not sign the paperwork when she received it, but is that enough?

Genetic counselors can learn from how consent is discussed in other areas. For example, “enthusiastic consent” is a concept used in sexual assault prevention training. The advocacy organization RAINN (Rape, Abuse & Incest National Network) describes enthusiastic consent as “the presence of a ‘yes’ rather than the absence of a ‘no.’” (RAINN, 2023) While even a patient who wants genetic testing might not be exactly enthusiastic about it, this kind of affirmative consent is still relevant. Getting affirmative consent can be as simple as asking, “Now that we’ve discussed the testing, do you want to go ahead with it?” This way, we invite an active “yes” instead of relying on the absence of a “no.”

Why We Don’t Ask

Why don’t we always give patients the chance for informed and affirmative consent? Three factors seem to interfere: time, assumptions, and understaffing. Time is a constant challenge, as in the second session above. Genetic counselors often have so much material to cover, and it can be tempting to hurry. 

Genetic counselors, like anyone else, also make assumptions. “They didn’t seem reluctant, so they must want it” is an easy assumption to make. And sometimes, an assumption may be warranted. Body language, tone, and a patient’s words may help a provider know whether that patient wants testing. But assumptions can always be wrong.

Understaffing also gets in the way. In some clinics, obstetrics appointments are hard to come by and sonographers may be a patient’s first point of contact. As genetic testing becomes more mainstream, non-genetics providers increasingly offer and request testing for patients. Such non-specialists may not have the knowledge to offer full information.

I don’t want to deny the challenges, and not every situation may need a direct request for consent. Sometimes a genetic counselor may know a patient well enough to be confident in their assumptions. Sometimes a patient may come from a cultural background in which such a question from a medical provider would be confusing or distressing. But in most cases, being informed is not enough.

Why We Should Ask

Even with the obstacles, we should ask. Affirmative consent supports respect, clarity, and rapport. We show our respect for patients when we openly ask for their decision. An affirmative choice allows everyone to be clear on what that decision is, and inviting this choice builds rapport and trust. Patients may come in with past traumatic experiences and mistrust; our explicitly asking for consent can help begin to repair that damage. 

Our patients deserve the chance to make a truly affirmative choice, and taking the time to ask directly for consent gives them that chance.

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References

Ormond, K. E., Borensztein, M. J., Hallquist, M. L. G., Buchanan, A. H., Faucett, W. A., Peay, H. L., Smith, M. E., Tricou, E. P., Uhlmann, W. R., Wain, K. E., & Coughlin, C. R., on behalf of the Clinical Genome CADRe Workgroup. (2021). Defining the critical components of informed consent for genetic testing. Journal of Personalized Medicine, 11(12), Article 12. https://doi.org/10.3390/jpm11121304

RAINN. (2023). What is consent? https://www.rainn.org/articles/what-is-consent

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