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HudsonAlpha, Kailos Genetics Expand Regional Population-Based Cancer Screening Program


NEW YORK (GenomeWeb) – The HudsonAlpha Institute for Biotechnology and Kailos Genetics have extended and expanded a population-based cancer screening program in the Huntsville, Alabama region, building on the success of the program's first year-long phase and the high level of interest it has generated in the community.

Originally launched last October, the "Information is Power" program offered free genetic cancer screening to 30-year-old women in Huntsville's Madison County and reduced-cost testing to individuals over 19 years old living in Madison and four surrounding counties — Jackson, Limestone, Marshall, and Morgan — in Northern Alabama.

In phase two, which is being supported by a grant for an undisclosed amount from Redstone Federal Credit Union, 30-year-old women and men in all five counties can order the test for free over the next year, while individuals 19 years or older in those counties will be able to get the test at a reduced cost of $129.

Beginning Oct. 29 and lasting until Oct. 28, 2017, participants may self-initiate the test by visiting the program's website. Participants do not need to visit a doctor's office, but instead can collect their own buccal swabs using a kit that arrives in the mail and then send the kit back to Kailos. They will also be required to provide the name of their healthcare provider, who will receive an authorization form to sign and return to Kailos in order to receive results.

As it did for phase one, Kailos, a six-year-old spinout of HudsonAlpha, will be conducting the sequencing at a reduced cost using a next-generation sequencing-based panel of 23 genes with at least a known association with increased risk of developing breast or ovarian cancer, including BRCA1 and BRCA2. However, many of the included genes are also known to play a role in other cancers such as prostate, pancreatic, and urogenital cancers, hence the inclusion of men in the screening program.

In the first phase, HudsonAlpha and Kailos screened more than 1,500 individuals, around 400 of which fell into the 30-year-old woman category. Of the 1,500 screened, the team found 44 patients, or about 3 percent, with pathogenic or likely pathogenic variants in one of the genes included on the panel.

"We did find some individuals who were unknowingly at increased risk, which was the primary reason for doing this sort of thing, to alert those folks," Kim Strong, a faculty investigator and director of the Ethics and Genomics Program at HudsonAlpha, told GenomeWeb this week. "Some people did not have a known family history of cancer, let alone breast or ovarian, and they were found to be positive for one of the risk-increasing genes."

For instance, Strong noted, one over-40 woman was screened who did have some history of cancer in the family, but not such that professional societies would have considered her a strong indication for genetic testing. However, the test revealed that this person did have a BRCA2 pathogenic mutation.

Individuals who receive a positive test result and their physicians will be contacted by a genetic counselor affiliated with the program. During a presentation about the program at the American Society of Human Genetics annual meeting last week in Vancouver, British Columbia, Richard Myers, president and science director at HudsonAlpha and a co-founder of Kailos noted that increasing the efficiency of genetic counseling is a major focus of the Information is Power initiative.

One of the issues, as one ASHG attendee pointed out, is that many of the genes included on the panel haven't definitively been demonstrated as conferring increased cancer risk.

"Many experts argued about what genes to include [on the panel] for a year," Myers said at ASHG. "We are going to make sure counseling conveys the different levels of risk."

Expanding on that, Strong this week told GenomeWeb that this is a concern with any population-based screening program.

"We don't have the workforce … to provide that traditional genetic counseling model to a population … and by 'we' I mean the whole genetics community," Strong said. "We're looking at creative ways to provide the necessary information that typically takes place during that exchange."

For instance, she noted, anyone who requests a test must first watch a video that explains many of the nuances of what the results might mean. "That video can't be fast forwarded through, and it's embedded prior to them being able to request a kit to move on and have testing done," Strong said. "We also tried to really alert our medical community about the initiative."

Strong noted that one of the biggest concerns of doing this type of testing is the potential for a false reassurance from a negative result. "If someone gets a negative result, we would hate for them to think that they don't need to go and [get] the type of screening that is recommended — mammograms, colonoscopies, anything that's associated with picking up cancers early," she said. "We go to great lengths to try and reiterate that point."

To hammer this point home, Strong has been sharing her personal experience of being diagnosed with breast cancer in her early 40s. "I happen to come from a family with a strong history of breast cancer … and I've had genetic testing done and I'm negative for all of these known genes and variants that increase risk. My family may have a hereditary gene or variant, but it's not something that is currently known."

If the testing program uncovers variants of unknown significance in test subjects, that information will not be disclosed to individuals and will be treated as a negative result. However, Kailos will own the screening data, and information about these VUS, as well as the gene variants associated with increased cancer risk, could be a valuable source of information for future research projects.

When asked at ASHG if data from the project will be made freely available to the research community, Myers noted that "if I had my say, it would be already. We want to release the data, but this was not designed perfectly in the format of a large-scale study."

Elaborating on this point, Strong told GenomeWeb that because the program was set up solely as a community screening initiative, research findings were not top of mind when it started. However, subjects who sign up for screening are able to indicate that they'd be interested in hearing about future research.

"About 80 percent of individuals who signed up [in phase one] have said yes to that," Strong said. "All that data [is Kailos'], and we are in the process of putting together some research projects that will be submitted to human research review boards so we can approach some of the folks who said they'd be willing to consider research."

"As a bioethicist working in genetics, one of the things I'd personally like to see moving forward is greater data sharing," she added. "We know that the more testing that happens, the more we learn about what variants may be more and less causative or risk-inducing."