Online tool helps patients demystify the 'Pandora's box' of genomic sequencing

December 10, 2019

Dec. 11, 2019 - A decision aid developed to support patients undergoing genomic sequencing can reduce the amount of time patients spend speaking with overburdened genetic counselors while helping them were more knowledgeable about the benefits of sequencing, suggests a study from St. Michael's Hospital.

Published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), the study evaluated the effectiveness of the Genomics ADvISER, an interactive online decision aid designed to guide patients who have had their genome sequenced and are being offered additional medical information revealed by the sequencing.

Generally, patients undergo genomic sequencing to learn about a particular condition they may have -- but the test also reveals secondary or incidental findings, a slew of other data that may or may not present troubling news about a person's risk to develop additional health issues.

For example, a person could have their genome sequenced to evaluate heart disease and uncover that they have a neuromuscular disease as well as a high risk for heart issues. Another might have their genome sequenced as part of a study on Cystic Fibrosis - a genetic lung disease - and find out they also have alterations in a gene that influences cancer.

"When you start to open the Pandora's box to find one thing you did want to know about your genome, you might find more than you bargained for," said Dr. Yvonne Bombard, a scientist at the Li Ka Shing Knowledge Institute of St. Michael's Hospital, who has led the creation of the Genomics ADvISER.

"Clinical guidelines recommend that clinicians engage in shared decision-making with patients about receiving secondary findings before sequencing. With existing constraints on genetic counselors' time, there is a need for less resource-intense ways to provide education and decision-making support."

Dr. Bombard's study found that patients who used the Genomics ADvISER needed to spend 24 minutes less speaking with a genetic counselor than those who did not access the tool. Those who used the Genomics ADvISER also said they were more knowledgeable about the benefits of sequencing.

This is the first known randomized controlled trial to evaluate a decision aid that guides adult patients' selection of secondary findings from genomic sequencing. One hundred and thirty three patients were randomized. The intervention arm used the Genomics ADvISER to select the categories of secondary findings they wished to receive, whereas control participants spoke to a genetic counselor to make their selection.

While the decision aid did not decrease decisional conflict compared with genetic counseling alone, it did result in shorter conversations with counselors and a higher knowledge of sequencing benefits.

"With this study, we have evidence that our decision aid has the potential to address a critical gap that exists in genomic sequencing," Dr. Bombard said.

"As genomic sequencing becomes more popular in a variety of specialties, achieving improved genomics knowledge with fewer resources and significantly less time spent with genetic counselors is a crucial benefit the Genomics ADvISER provides."

Dr. Bombard and her team have started to look at ways to develop tailored methods to support patient needs during and after genomic sequencing. They are working on the 2.0 version of the Genomics ADvISER, which will transform aid into an adaptable, interactive, patient-centered digital decision support tool using artificial intelligence to customize it based on patient preferences, values, health literacy and experiences.
-end-
This study was supported by a Foundation Scheme Grant from the Canadian Institutes of Health Research.

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 http://www.unityhealth.to.

St. Michael's Hospital

Related Genome Articles from Brightsurf:

Genome evolution goes digital
Dr. Alan Herbert from InsideOutBio describes ground-breaking research in a paper published online by Royal Society Open Science.

Breakthrough in genome visualization
Kadir Dede and Dr. Enno Ohlebusch at Ulm University in Germany have devised a method for constructing pan-genome subgraphs at different granularities without having to wait hours and days on end for the software to process the entire genome.

Sturgeon genome sequenced
Sturgeons lived on earth already 300 million years ago and yet their external appearance seems to have undergone very little change.

A sea monster's genome
The giant squid is an elusive giant, but its secrets are about to be revealed.

Deciphering the walnut genome
New research could provide a major boost to the state's growing $1.6 billion walnut industry by making it easier to breed walnut trees better equipped to combat the soil-borne pathogens that now plague many of California's 4,800 growers.

Illuminating the genome
Development of a new molecular visualisation method, RNA-guided endonuclease -- in situ labelling (RGEN-ISL) for the CRISPR/Cas9-mediated labelling of genomic sequences in nuclei and chromosomes.

A genome under influence
References form the basis of our comprehension of the world: they enable us to measure the height of our children or the efficiency of a drug.

How a virus destabilizes the genome
New insights into how Kaposi's sarcoma-associated herpesvirus (KSHV) induces genome instability and promotes cell proliferation could lead to the development of novel antiviral therapies for KSHV-associated cancers, according to a study published Sept.

Better genome editing
Reich Group researchers develop a more efficient and precise method of in-cell genome editing.

Unlocking the genome
A team led by Prof. Stein Aerts (VIB-KU Leuven) uncovers how access to relevant DNA regions is orchestrated in epithelial cells.

Read More: Genome News and Genome Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.