How digital tools can advance quality and equity in genomic medicine

Updated on

Default Image

By Jennifer Stranges

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.

About St. Michael’s Hospital

St. Michael’s Hospital provides compassionate care to all who enter its doors. The hospital also provides outstanding medical education to future health care professionals in more than 27 academic disciplines. Critical care and trauma, heart disease, neurosurgery, diabetes, cancer care, care of the homeless and global health are among the Hospital’s recognized areas of expertise. Through the Keenan Research Centre and the Li Ka Shing International Healthcare Education Centre, which make up the Li Ka Shing Knowledge Institute, research and education at St. Michael’s Hospital are recognized and make an impact around the world. Founded in 1892, the hospital is fully affiliated with the University of Toronto.

About Unity Health Toronto

Unity Health Toronto, comprised of Providence Healthcare, St. Joseph’s Health Centre and St. Michael’s Hospital, works to advance the health of everyone in our urban communities and beyond. Our health network serves patients, residents and clients across the full spectrum of care, spanning primary care, secondary community care, tertiary and quaternary care services to post-acute through rehabilitation, palliative care and long-term care, while investing in world-class research and education. For more information, visit



Harvard Health Publishing

Database from Health Information and Medical Information

Harvard Medical School
Go to source

Trusted Source

Database From Cleveland Clinic Foundation

Go to source

Trusted Source

Database From U.S. Department of Health & Human Services

Governmental Authority
Go to source


Database from World Health Organization

Go to source

Neurology Journals

American Academy of Neurology Journals

American Academy of Neurology
Go to source


United Nations Global Compact
Go to source

Trusted Source

Database From National Institute for Occupational Safety & Health

U.S. Department of Health & Human Services
Go to source

Trusted Source

Database from U.S. National Library of Medicine

U.S. Federal Government
Go to source

Trusted Source

Database From Department of Health and Human Services

Governmental Authority
Go to source

PubMed Central

Database From National Institute Of Health

U.S National Library of Medicine
Go to source