In early April, PerkinElmer and Helix announced the launch of a genetic screening test offering clinical-grade DNA sequencing targeting healthy consumers who want to take a more proactive role in their own health.
The test, dubbed GenePrism: Action- able Insights and available via the Helix Marketplace, is a clinical-grade DNA test for healthy individuals that analyzes all 59 medically actionable genes identified by the American Col- lege of Medical Genetics and Genomics (ACMG)—commonly called the ACMG 59.
While there are companies that will test patients for the ACMG 59 genes, the product offered by Helix and Perkin- Elmer is the first test of its kind offered to healthy individuals via a consumer platform.
According to Madhuri Hegde, Ph.D., vice president and chief scientific officer of PerkinElmer Genomics, the company is uniquely suited to generating this kind of information based on its long track record of providing diagnostic services—including more than 70 years in the newborn screening field—as well as what she said is one of the largest and most diverse genomic databases in the world.
“The U.S. population is no longer a homogenous population,” Hegde said. “PerkinElmer has labs in India, China, Malaysia, and the U.S., which are all a part of the Perkin- Elmer global genomics laboratory network. The database (used for GenePrism) is driven by these different popula- tions, which makes it more powerful.”
The test is available now to Helix customers in its Marketplace alongside other offerings that span a wide range of health, wellness, and entertainment products leveraging genomic data provided by Helix’s proprietary Exome+ test. For those who have already had the Exome+ test performed, GenePrism costs $259, and for those having their exome sequenced for the first time, the cost is $299.
Helix’s first product was launched with National Geographic in late 2017. The Geno 2.0 test built upon more than a dozen years of testing by National Geographic’s Genographic Project. The product provided not only ancestry information, but also ancient migration patterns of ancestors and even information about what percentage of a per- son’s genes are similar to Neanderthals. In mid 2018, Helix launched its marketplace, which contained a number of different applications including those providing diet, sleep, and exercise advice. Since the marketplace debut, there have been a number of applications launched that are more clini- cally focused such as products that test for the ApoE gene for Alzheimer’s disease, inherited diabetes testing, polygenic risk scoring for prostate cancer risk, and now GenePrism.
According to Elissa Levin, senior director of clinical affairs and policy at Helix, while the company’s marketplace first featured applications that were more entertainment focused or “fun”—such as Vinome, which provides wine recommendations for people based on their genetic makeup—the company’s roadmap has always been to market products that also focus directly on patient health and provide clinically relevant information.
“The whole Helix premise is to enable this and make it seamless as possible,” Levin said. “We have the underlying clinical-grade data from Exome+ and it is up to our partners to decide what they think is important that they want to get out there that is clinically responsible.”
As PerkinElmer looks to build its genomic testing busi- ness, making sure GenePrism was on solid clinical footing was of utmost importance. Hegde noted that the company could easily have launched a service that analyzed hun- dreds of genes that have shown some level of clinical rele- vance, but choose to first focus on the ACMG 59.
“We made a conscious decision to go off the industry accepted guidelines that these are the most actionable genes,” Hegde said. “Because when someone gets a positive result and this is given to the patient, their GP should be able to understand the results and they can point to medically actionable treatment guidelines.”
Another important aspect for PerkinElmer in choosing to be in the Helix Marketplace was the company’s partnership with Genome Medical. Self-described as “a nationwide genetic medical practice” Genome Medical is staffed by medical geneticists well-versed in helping patients navigate their journey after the discovery of genetic information that may affect their health, or the health of family members.
Individuals who sign up for GenePrism need to receive physician authorization and are required to complete an online medical questionnaire, developed in collaboration with Genome Medical, before submitting a DNA sample.
“If at any point during the questionnaire the family history flags, it will flag to Genome Medical before your test is run,” said Justin Leighton, director of genomics market- ing at PerkinElmer. “Lets say you had a mother with breast cancer at 35, they might be inclined to call you and say that (GenePrism) only screens for four or five genes and maybe you want to have a clinical assay that looks at the 30 most common genes associated with breast cancer. We want to do this in the most clinically responsible way.”
Once the information is provided to the individual, it is up to them to make the decision about whether to get further testing elsewhere, but the process is designed to let people buying GenePrism understand exactly what they are getting.
Users of the test have their DNA sequenced by Helix and the results are interpreted by board-certified medical geneticists at PerkinElmer Genomics using ODIN (Ordered Data Interpretation Network), PerkinElmer’s proprietary high-throughput software platform. Return of results to patients is through a portal on the Helix website that provides a concise breakdown of what the testing has found and educational resources that can help individuals bet- ter understand what their testing has revealed. If positive results are returned to the patient, the service provides free genetic counseling sessions from Genome Medical, to ensure customers understand their results fully and in the correct context.
As Levin sees it, products like GenePrism help further the Helix model that allows for people to “sequence once and query again and again.”
“People come at this from all angles. There are some that just want the actionable health information to tell them what they don’t know in order to be as proactive as possi- ble,” Levin said. “There are other people who don’t want to get anywhere near that. They just want to find out some fun traits, some things about ancestry, and they dip their toe in the water.
“This model basically opens it up to the creativity of the marketplace to create these products. The fact you can get, in essence, on-demand data is just a total game changer.”