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Oregon Lawsuit Highlights Importance of Genetic Counseling During Period of Increasing Test Access

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NEW YORK (GenomeWeb) – As the genetic testing industry keeps growing rapidly, a $1.8 million medical malpractice lawsuit against healthcare providers in a southwest Oregon medical center is putting a spotlight on the importance of appropriately counseling patients about genetic risk factors.

Elisha Cooke-Moore, 36, earlier this month sued ObGyn William Fitts, nurse practitioner Lori Johns, and surgeon Jessica Carlson at Curry Medical Practice in Curry County, Oregon, alleging that they misinterpreted the results of a genetic test and told her that she had a significantly higher-than-average genetic risk of breast and uterine cancer. Based on their recommendation, Cooke-Moore underwent a bilateral mastectomy and a hysterectomy that she said she wouldn't have consented to had doctors correctly explained her genetic test results.  

"She never knew [the genetic test] was negative until after the surgeries had been performed," said Cooke-Moore's lawyer, Christopher Cauble, adding that nothing in the medical record suggests she was offered genetic counseling.

What doctors told Cooke-Moore about her test results and cancer risk isn't fully known. Curry Health Network, which owns the medical practice and is a defendant in the lawsuit, stated that it doesn’t comment on pending litigation.

Cooke-Moore has never had cancer, but her mother and grandmother have. Two years ago, during an annual checkup, one of her doctors determined that she needed to be screened for cancer and evaluated for genetic risk factors that she might have inherited. In the course of various workups and evaluations, she received Myriad Genetics' MyRisk test, which analyzes a panel of hereditary cancer susceptibility genes, including BRCA1, BRCA2, and MLH1.

According to the complaint, her mammogram, pap smear, and other test results came back normal. The genetic test report from Myriad, which Cooke-Moore's lawyer shared for this article, indicates that "no clinically significant mutation has been identified."

"Anybody looking at [the report] would say, 'Oh my gosh, it's negative,'" said Cauble. "It isn't difficult to interpret. I am a little bit dumbfounded as to how the doctor could have made this kind of mistake."

However, the genetic test report also flagged a variant of unknown significance (VUS) in MLH1, which might have confounded her caregivers — genetics experts have maintained that VUS are a source of confusion for many doctors.

Variations in MLH1 are associated with Lynch syndrome, a hereditary cancer syndrome associated with an increased risk for colorectal, endometrial, and other types of cancers, though not clearly with breast cancer. Variations in genes are common, but not all are known to cause disease. In fact, most gene variants turn out to be benign.

In Cooke-Moore's report, the VUS designation means that based on currently available evidence, the testing lab cannot determine definitively whether that specific variant (MLH1 c.191A>G) is benign or causes Lynch syndrome.

Cooke-Moore's genetic test report also notes that two of her family members reportedly had invasive breast cancer and endometrial or uterine cancer. "No clinically significant mutations were identified in this patient," the report states. "However, based on personal/family history, the patient's cancer risks may still be increased over the general population." 

Cauble acknowledged that Cooke-Moore's family does have a history of cancer, but he argues that the doctors treated his client as if she had Lynch syndrome, primarily based on a misunderstanding of the genetic test report.

"Genetic information is complex, and it is critical that it be interpreted correctly by the providers who order the testing and be explained adequately to patients," said Susan Domchek, a medical oncologist and director of the MacDonald Women’s Cancer Risk Evaluation Center at PennMedicine. Domchek stressed that her comments did not refer directly to this lawsuit.

Patients with variants of uncertain significance should be managed based on their personal and family history of the disease only, and not based on the genetic finding, she noted, because the variant could very well be a benign change in the genetic code. This is in line with the American College of Medical Genetics and Genomics guidelines, which state that a variant of uncertain significance "should not be used in clinical decision making," though the expert group advises that efforts should continue to try to arrive at a more definitive classification of the variant and to monitor the patient for the condition. 

"If no mutation is found in a family, the family history is still quite important," Domchek said. "The negative genetic test does not make the family history go away."

Women trying to decide whether to surgically remove their breasts, ovaries, or their uterus must grapple with family members who had and died from cancers, their own experience with cancer, their plans for having children, and notions of femininity. The genetic test result can be a key piece of information in that difficult decision-making process.

According to Cooke-Moore's complaint, she tried in several instances to garner more information and explanations from her doctors, but she "was not sufficiently informed about Lynch syndrome or the meaning of her genetic testing results."

The complaint further alleges that the doctors at Curry Medical Practice never directed her to a genetic counselor who could explain her cancer risks and test results. "The doctor should have told her to get genetic counseling at the very least," Cauble said, but noted that in this part of the country, there are few genetic counselors.

The American Board of Genetic Counseling estimates that there are currently only 4,000 certified counselors. A 2016 US Bureau of Labor Statistics map shows the highest concentration of genetic counselors is in New York, California, Ohio, Florida, and Massachusetts. The map doesn't have employment data from many states in the middle and northwest regions, including Oregon, where there are few genetics professionals on the ground. 

Leslie Ordal, a genetic counselor for St. Michael's Hospital in Toronto, who grew up in southern Oregon, wasn't surprised to learn that Cooke-Moore claims she wasn't referred to a genetic counselor. "There is not enough awareness that genetic counseling is a profession and people aren't aware of what genetic counselors do," she said.

Also, some healthcare systems may not be open to hiring in-house genetic counselors because they're perceived to add to costs. A breast surgeon in New Mexico, a state sorely lacking in genetic counselors, for example, recently told Ordal that her hospital administrator was asking her to learn how to counsel patients, even though she didn't feel comfortable doing it.

It's not clear if Curry Medical Practice had in-house genetic counselors, but at least according to Cooke-Moore's lawyer, "There are no genetic counselors in the area."

Cooke-Moore lives in Gold Beach, a city of around 2,300 residents on the southern coast of Oregon, nestled between the Pacific Ocean and the Rogue River. The residents aren't wealthy and live far away from major healthcare centers. "We don’t have a theme park or shopping mall in Gold Beach," according to a website for the city. "It’s a little difficult to get here and that’s part of the charm."

"She's hours away from a larger facility," Cauble said. "It would have been hard for her to drive out and get second and third opinions. You just can't get them here, because there isn't enough population and there aren't enough physicians."

Some states with isolated and underserved populations, such as Maine, have successfully piloted and implemented telegenetics services. Also, most genetic testing labs employ genetic counselors who can answer doctors' questions about a patient's test report. Oregon Health & Science University in Portland operates a consult line that providers from all over the state can refer patients to or that they can call themselves to discuss cases with the genetics faculty.

"If there are any questions about what information was provided by a testing lab, that's a resource that people have, even in the outskirts of Oregon, where they don't have genetics professionals," said Jone Sampson, director of clinical cancer genetics at OHSU.

In an effort to fill the growing demand for genetic counselors, telegenetics services are increasingly available as an option for patients who can't come in for a face-to-face session. Genome Medical, for example, is a new entrant in the field that charges $149 for a video consultation. Commercial insurers will also reimburse for telegenetics services, said Scott Weissman, founder of Chicago Genetic Consultants and a genetic counselor who advises patients in person and over the telephone. 

Cooke-Moore, meanwhile, is on Medicaid, and it's not clear if her insurance company would have covered genetic counseling. "Genetic counselors can't really bill Medicare," Weissman said. "And getting coverage from Medicaid can be quite challenging and is state-dependent."

Some commercial insurance companies concerned about inappropriate genetic testing have begun requiring patients talk to a certified genetic counselor in order to receive coverage for testing. However, some payors also allow ObGyns to perform the counseling.

The difficulty for healthcare providers, currently, is that genetic testing is more widely available today than ever before. Ten new genetic testing products enter the market daily and a large portion of them are next-generation sequencing panels that analyze many genes at once. Healthcare providers lacking genetics expertise may not understand how to weigh mutations in these different genes in the context of a patient's medical and family history.

"Some of the labs do market their tests to primary care providers, ObGyns, surgeons, oncologists, and those people don't have extensive training [in genetics]," Sampson said. "And with the panel testing, there are a bunch of different genes with a bunch of different risks that are grouped together … and people who are not familiar with genetic testing just assume that they all have the same risk."

Further, there's also a lack of understanding among non-geneticist healthcare providers about what to do with variants of unknown significance (VUS). "The number of physicians I've encountered that think a variant of uncertain significance is a positive result is astounding," Ordal said.

Sampson noted that she does further investigate VUS results, however, checking to see how other labs are classifying them and what information there is in public databases like ClinVar and in the published literature.

A few years ago, the NIH started ClinGen in an effort to define the clinical relevance of genes and variants in precision medicine and research, and simultaneously funded ClinVar, a database of genotype/phenotype relationships. Myriad doesn't submit variants to ClinVar, but a ClinGen-approved expert panel has classified the MLH1 variant (c.191A>G) that Cooke-Moore has as a VUS. Three other labs also classified it as a VUS in ClinVar, and one lab deemed it likely pathogenic as of last year.