NEW YORK (GenomeWeb) – PerkinElmer Genomics last week made a foray into the consumer genomics market with the launch of GenePrism, a genetic disease risk test the company developed in partnership with Helix and is offering through Helix's online marketplace.
The launch comes a year after PerkinElmer and Helix said they were partnering to develop the test, which currently includes the 59 genes deemed actionable by the American College of Medical Genetics and Genomics (ACMG).
PerkinElmer already offers a wide spectrum of clinical testing services for hereditary disorders, ranging from noninvasive prenatal screening with its Vanadis test to newborn screening to gene panels to clinical exome and genome sequencing.
Also, PerkinElmer Genomics, the company's clinical diagnostic laboratory arm, has been expanding globally in recent years with labs in the US, two labs in China, one in India, and the acquisition of DNA Laboratories in Malaysia last year.
"We have pretty much covered the continuum of care, and now the next step is, how can we enter into the consumer genomics space?" said Madhuri Hegde, vice president and CSO of PerkinElmer Genomics. "We all know that genetics is moving mainstream. It is no longer limited to someone who has a condition."
The company decided not to go the direct-to-consumer route, like 23andMe, she said, but to require its test to be physician-ordered, and to offer it through a partner rather than directly through one of its own labs.
Helix seemed an attractive partner in several ways. In creating its marketplace, Helix has "done a tremendous amount of work in data privacy," Hegde said. Also, Helix was attuned to the need for developing educational tools for consumers. "I wanted to make sure that we partnered with someone who actually understands that education is a big, big piece of this," she said.
Developing the environment around the test, including pre- and post-test education and designing the report, was one of the reasons why it took the partners so long to launch GenePrism. "It took us a whole year to bring this to the market, but we spent an enormous amount of time thinking this through," Hegde said. "The assay was always ready," she said. "It is more the educational part, the complete experience — we did not want to put out something in a rush."
In addition, PerkinElmer wanted to ensure that the assay was able to detect both single nucleotide variants and copy number variants, she said, which required some internal validation work.
Unlike other companies, such as Invitae and Color, who also offer tests for individuals concerned about their genetic risk for diseases like heart disease and cancer and have come up with their own gene panels, PerkinElmer decided to go with the ACMG59 gene list.
"We're so early in the consumer [genomics] space right now that a community-driven, evidence-based approved gene list, such as the one put out by an organization like ACMG, made the most sense to me," Hegde said. "I did not want to start a gene-list debate, 'Why does PerkinElmer have this gene and Invitae does not have this gene, or Invitae has this gene and PerkinElmer has forgotten this gene?'"
Her team also decided not to include any pharmacogenetic results, which she said are only useful if they make it into someone's electronic health record.
On the Helix website, GenePrism is currently available for $259.99 for existing Helix customers and for $299.99 for new customers. This includes $30 for a physician from partner Genome Medical to review the order and determine whether the test is appropriate, and for genetic counseling services.
If someone with a family history of breast cancer ordered the test, for example, the Genome Medical clinician, who is trained in genetics, might recommend a different test that is more comprehensive for breast cancer, Hegde said. This recommendation would not prevent someone from still getting GenePrism if they really wanted to, she said, "but you have made an educated, informed decision of what this means."
The customer will then obtain a saliva kit from Helix and send in their sample, which Helix will put through its exome sequencing pipeline. PerkinElmer will then obtain only the data for the 59 ACMG genes for interpretation and issue the clinical report, which will be made available to customers through the Helix portal. "You have the option of viewing the report, but at every step, there is a genetic counselor, there is a button that tells you, 'if you have a question, stop here right now and get a genetic counselor,'" Hegde said, a service that is included in the test price.
Customers who receive a positive test result — about 3 percent are expected to — will obtain genetic counseling, and their own physician can also obtain advice on what action to take.
While it is hard to predict who will purchase the GenePrism test, Hegde said she thinks it might become popular in the 30- to 40-year-old age group. However, she said she has also noticed that older individuals often want to get sequenced in order to be able to educate their family, "so it will be interesting to see."
In the meantime, PerkinElmer Genomics' clinical test menu is expanding. Hegde said that the firm's Vanadis NIPT will soon be available through its Pittsburgh lab, for example. The firm is also working on getting into metabolomics and adding RNA sequencing to evaluate variants of unknown significance for neuromuscular and other disorders. It also plans to add immunology ELISA-type assays, enabling it to test for both genetic and acquired diseases.
"My vision, really, is the omics space," she said. "Genomics, sequencing, is just a piece of the puzzle. Making it as comprehensive as possible, that's the goal."
In addition, the company is "very keen" on adding a laboratory in Europe, which currently represents a hole in its global network of labs, she said.