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Physicians' Genomics Knowledge, Basic Skills Still Barrier to Adoption, Study Finds


Originally published Sept. 15.

NEW YORK (GenomeWeb) – Numerous studies by now have come to the conclusion that primary care physicians' lack of genomics knowhow is hindering their adoption of molecularly guided treatment strategies.

A new systematic literature review, however, suggests that despite knowing this hurdle exists, over the last decade PCPs' comfort and skills in incorporating genomic data in patient care haven't improved. Moreover, the problem isn't only that primary care physicians lack genetics education, according to the study, but also that they don't have the basic skills — how to take a family history, apply the relevant treatment guidelines, or pick the right test — to deliver molecularly guided precision care.

To assess if any of the adoption barriers for doctors had eased over the years, a team led by Natalie Mikat-Stevens from the American Academy of Pediatrics searched the literature for papers published from 2001 to 2012 in which physicians identified challenges to incorporating genetics services in their practices. After looking through more than 4,000 papers, and dropping articles that didn't meet certain criteria, Mikat-Stevens' group settled on 38 publications. The adoption roadblocks commonly mentioned in these papers dealt with limited genetics knowledge and genetic risk assessment skills; patient anxiety worries; limited access to genetics counselors; and lack of time.

"Specifically, PCPs reported difficulty explaining the limitations of screening tests to patients, and issues with false-negative and false-positive test results, as well as with general interpretation of genetic tests results, which they often found ambiguous," the study authors noted.

The study by Mikat-Stevens and colleagues identified 22 different types of knowledge and skill barriers cited 84 times in their literature review. The challenges highlighted in these studies had to do with doctors' lack of knowledge about genetics topics, but also their confidence in being able to collect a family history, counsel patients about genetic risk, and make correct treatment management decisions.

Some doctors seemed to be unaware of existing treatment guidelines regarding how to interpret patients' family histories, while others just didn't know how to apply the guidelines themselves. Of the 38 studies, 14 mentioned physicians' inability to order a genetic test and interpret the results. Doctors in these studies specifically said they struggled to explain limitations of screening tests, particularly false-negative or false-positive results.

"Time has not stood still for the field of genetics since the completion of the [Human Genome Project]," Mikat-Stevens and colleagues noted in their paper. "Before PCPs even set foot in the clinic, they are already behind … PCPs' genetics training is likely decades old and rusty from lack of use."

The HGP was completed in 2003. Mikat-Stevens' group included in their survey published literature from a few years before the project's completion, and nearly a decade since, and failed to find any trends suggesting that doctors have gotten more confident with genomic information. "I don't think the education was improving because not much has changed in the medical training realm," Mikat-Stevens told PGx Reporter. "There are limited continuing medical education opportunities, but physicians aren't actively seeking or utilizing these."

In the past few years, a number of universities have launched courses where students can genetically analyze a human sample, usually their own, and interpret what the results mean in terms of disease risk. At other schools, such as Ohio State University, doctors in training get to work with patients to encourage lifestyle changes based on their genomic and behavioral risk factors. In launching such efforts, medical schools are aiming to spark an interest in molecular medicine and improve the genetic literacy of future healthcare providers.

Mikat-Stevens noted that her team scanned for adoption barriers in cohort studies, and did not focus on looking at the impact of any standalone interventions. As such, they didn't capture whether specific genomics educational programs impacted physician knowhow.

"We're not saying that primary care providers should become mini geneticists, and know how to interpret all the genetic information," Mikat-Stevens said, adding though that doctors would benefit from making more use of genetic counselors. When physicians are connected to genetics professionals, they are able to more effectively use tests and other resources to care for their patients, noted Mikat-Stevens, who manages the Genetics in Primary Care Institute at the American Academy of Pediatrics.

These study findings come as genetic and breast cancer research pioneer Mary-Claire King from the University of Washington has controversially suggested that healthcare policy makers consider implementing universal screening programs for genetic markers important to disease risk, regardless of patients' family histories for the illnesses. One of the reasons for King's suggestion was that tracking occurrences of a disease within a family can be error prone given that a large proportion of doctors in the US can't correctly take a family history.

King's suggestion for population genetic screening was met with skepticism from a genetic counseling group in the US that believes the country's healthcare system is ill-prepared to implement such a program. "It's going to be imperative for genetic counseling and risk assessment to be a part of the process … to make sure the right test is ordered, the patient understands the results, and the psychological concerns that go along with testing are also addressed," Joy Larsen Haidle, president-elect of the National Society of Genetic Counselors, told PGx Reporter.

Doctors and patients don't always have easy access to genetic counseling experts. For example, the Mikat-Stevens team included in the 38 published papers one 2008 study where 24 percent of Alabama pediatricians said they were unable to direct patients to genetic consultations; 67 percent deemed it "difficult or not possible" to refer patients for a face-to-face genetics evaluation; while 58 percent said it was even challenging to get them set up with a remote genetics evaluation.

In recent years, better availability of telephonic services has improved access problems for those in communities far from genetic counseling centers. The greater challenge now, as increasingly complex diagnostics tools come to market and more patients get their exomes and whole-genomes sequenced, is the amount of information genetic counselors have to relay to patients about different tests, genomic markers, and the implications of this data for their health. There is more of a chance that, by testing patients on multi-gene panels, they will receive an unanticipated finding, and within the medical community there is disagreement about what to do with such results.

Patient anxiety and psychological distress from learning genetic risk data were among the roadblocks identified by physicians in the studies reviewed by Mikat-Stevens' group. "PCPs … mentioned that genetic testing may have unanticipated findings that are secondary to the intent of ordering testing and that may cause distress among adults and minors regarding adult-onset disorders," the researchers wrote in the paper.

The American College of Medical Genetics and Genomics (ACMG) recommended last year that for patients who have had their exomes or genomes sequenced, doctors should report to them clinically actionable mutations they might have on a list of 56 genes linked to a risk for various medical conditions. The recommendations weren't received well by many in the medical community, who felt that patients should have the option of not learning unexpected or unwanted incidental findings. Based on this feedback, the ACMG working group revised its guidelines to allow patients to opt out of having the genes on the list analyzed when their exomes and genomes are assessed in a lab.

Also in the surveyed papers, Mikat-Stevens' team found that doctors worried their patients' genetic test results might open them up to insurance discrimination. Some of these studies were conducted before the Genetic Information Nondiscrimination Act of 2008 made it illegal for employers or health insurance companies to use anyone's genetic data to make job or care decisions, but some doctors continued to express concerns in this regard after passage of the law. Doctors also raised issues with the fact that the security of confidentiality of patients' genetic data might be breached.

Finally, doctors were vexed about the lack of reimbursement coverage for genetic tests, the cost performing the tests would incur on their practices, or the costs that the patient would have to pay. Mikat-Stevens noted that the reimbursement concerns aren't that much of a barrier once a doctor decides that a test is necessary for a patient. It's arriving at the decision to do the test in the first place that's challenging. "In a busy primary care [setting], anything related to genetic risk will fall low on the priority list unless there is a clear indication, or the patient raises a concern," she said.

This multitude of barriers holding back physicians' adoption of molecularly guided treatment strategies can't be solved by any one group in healthcare, Julie Goonewardene, associate vice chancellor of the University of Texas System, told PGx Reporter.

"We have to have all the stakeholders at the table talking through how we … are going to implement personalized medicine. It's not a single thing that one party controls," said Goonewardene, who at the end of October is chairing a conference hosted by Diaceutics where many experts and leaders from different healthcare sectors will discuss the challenges to implementing genomic strategies into patient care. As a member of the American Medical Association's Board of Trustees, Goonewardene specified that her comments were not being made on behalf of the doctor's group.

On a positive turn, what is changing, according to Mikat-Stevens, is that genomics is increasingly on doctors' radar. A study in 2003 found that many physicians weren't even interested in thinking about how genetics might be used in their practices, Mikat-Stevens recalled. "This has definitely changed," she said.