Many Physicians Still Skeptical About Usefulness of Genomics

Neil Osterweil

November 06, 2013

BOSTON — The perceived value of using genomics to identify medical risk is strongly linked to the practical benefits for primary care physicians and nurses, say investigators who study clinician attitudes.

"We have tried so hard to get physicians to do workshops with us, but we keep hearing that this isn't relevant to our practice," Christina Catley, PhD, from the University of Ottawa in Ontario, Canada, told Medscape Medical News.

Dr. Catley presented results from a pilot study here at the American Society of Human Genetics (ASHG) 63rd Annual Meeting.

The study was designed to determine how nongeneticist health professionals understand emerging genomic technologies, and to identify factors that might encourage the adoption of the technologies into daily practice.

Despite aggressive recruitment efforts, the investigators were only able to enroll 15 clinicians for a 90-minute workshop, during which the clinicians learned about the range of contemporary genomic practice in healthcare and engaged in discussions.

They also heard case studies covering a broad range of potential genomic applications, such as screening newborn infants for susceptibility to type 1 diabetes mellitus, population-based colorectal cancer screening, a systematic approach to family history-taking in primary care, and the use of pharmacogenetics to aid in decision-making when prescribing warfarin.

Investigators surveyed the clinicians before and after the workshop about their attitudes on how important or useful genetics could be in their daily practice.

Primary care physicians and nurses in various specialties were only slightly more likely after the workshop to say that screening patients for genetic colorectal cancer risk would make a difference in their clinical decision-making, and were less likely to consider screening patients for genetic predisposition to type 1 diabetes mellitus, Dr. Catley reported.

The key difference in attitudes before and after the workshop, however, depended on the clinicians' perceptions of whether or not there were practical benefits to the genomic technology. For example, a nurse asked about the utility of screening newborns for type 1 diabetes mellitus said that "there's no benefit in screening for something you can't do anything about."

In contrast, a physician asked about the use of genomics in family history-taking noted that "family history is a way to open a dialogue and relate what the patient has observed back to what you see."

Table. Perceptions of Clinicians About Genomics Before and After the Workshop

Screening Strongly Agree (%) Agree (%) Neutral (%) Disagree (%) Strongly Disagree (%)
Colorectal cancer          
   Before 20 47 13 7 13
   After 33 33 14 2 0
Type 1 diabetes          
   Before 20 33 27 7 14
   After 14 7 21 13 44


When it came to assessing the effectiveness of the workshop, results were similarly mixed, the investigators report.

In a separate study, Jason Vassy, MD, from the Veterans Affairs Boston Healthcare System, and his team surveyed primary care physicians and cardiologists about their perception of the clinical utility of family history and whole-genome sequencing.

The investigators found that "physicians may rate family history as having greater utility than whole-genome sequencing for the present-day management of their patient's health, but they expect this gap to close in the future."

ASHG president Jeffrey Murray, MD, told Medscape Medical News that "physicians have a huge number of demands on their time, so getting them to buy into something really does require that they see it having some benefit to their practice. It's hard to motivate them for things that are 10 or 20 years down the road."

Dr. Murray, who was not involved in either study, acknowledged the challenges for geneticists in communicating the fundamentals of their research to their colleagues in primary care, and said that one of the major goals of the ASHG in the coming years is to tackle this issue.

"I think we have to try to focus on the areas where the clinical impact is genuine," he said, pointing to cancer screening and to genetics-driven therapies for breast cancer and other common malignancies.

As the price of whole-genome sequencing continues to drop, primary care clinicians will increasingly be called on to interpret results and counsel patients on risk for genetic diseases, Dr. Murray added.

The study by Dr. Catley's team was supported by the Canadian Institutes of Health Research. The study by Dr. Vassy's team was supported by the US National Institutes of Health. The authors and Dr. Murray have disclosed no relevant financial relationships.

American Society of Human Genetics (ASHG) 63rd Annual Meeting: Abstracts 2506W and 2518W. Presented October 22 - 26, 2013.


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