How digital tools can advance quality and equity in genomic medicine

The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.

In a paper published this week in Nature Reviews Genetics, Dr. Yvonne Bombard, genomics health services researcher, scientist at the Li Ka Shing Knowledge Institute and lead author of the paper, says basic genetic services are now more accessible than ever thanks to technology, but that genetic specialists have a responsibility to ensure access of this kind of care is high quality and equitable for all patients. "The onus is now on our community to build the evidence base and required governance model to ensure equitable and sustainable digital genomic medicine."

Here is a summary of the piece:

Shifting dynamics of care

• The early experiences of virtual health care are signaling a shift in health care as we know it.
• Outside of a clinical setting, the doctor–patient hierarchy dissolves with virtual visits, and allows patients to feel more comfortable speaking and sharing ideas.
• Genetics specialists feel strongly about having ongoing communication with patients to build rapport, understand the nuances of the patient and their circumstances, and ensure complex information is delivered with the expertise it requires.

Balancing digital access with human interaction

• Genetics specialists need to consider how to best balance the efficiencies granted by digital tools with the comfort and quality of in-person visits.
• Patients were enthusiastic about the Genomics ADvISER, a digital health application to guide patients' choices in the case of incidental findings, though some patients still wanted a human connection. This highlights the need for hybrid approaches to virtual care.
• Dr. Bombard is co-leading the development of the Genetics Navigator, a hybrid model of care for genomic medicine whereby in-person (or video conference-based) encounters are supplemented with digital pre- and post-test tools.

A watershed moment

• Digital solutions have exposed technological divides in addition to existing disparities in access to health care, such as race, income and geography.
• Genomic services that are available digitally may allow patients to access the services no matter where or who they are, however the quality of care afforded by digital solutions is only as good as the data put into these systems.
• Digital tools where control is shared with patients can increase patients' trust and address their privacy concerns. They also enable the design of patient-centred solutions that ultimately improve patients' experiences and outcomes.