Ancestry, the consumer genetics company that has until now focused on helping people understand their family history, on Tuesday revealed new products that will allow consumers to get health information based on their DNA results — putting it in direct competition with 23andMe.
Ancestry has chosen a very different strategy than its rival. Unlike 23andMe tests, which are ordered by consumers, AncestryHealth products will be ordered by a physician who works for PWNHealth, a New York-based national network of doctors that says on its website that its mission is “to enable safe and easy access to diagnostic testing.” Access to professional genetic counselors, also from PWNHealth, will be included in the purchase price, which will be as low as $49.
Margo Georgiadis, Ancestry’s CEO, told STAT that “consumers decide” sums up the company’s philosophy about how and when people will access genetic counselors. “It’s always about choice and control in that experience for them. We have really tried to create an experience that helps people digest and understand information.”
She said customers will be shown online educational videos about DNA testing before getting results and, afterward, be given detailed online resources to better understand them. Then, if they need it, they might talk to a genetic counselor.
The fact that physicians — who will not initially see or directly interact with patients — order the tests means that AncestryHealth will not be regulated by the Food and Drug Administration, which regulates 23andMe, but by the Centers for Medicare and Medicaid Services under the rules for physician-ordered diagnostic tests.
“Ancestry has largely escaped much of the controversy that has dogged consumer genomics,” said Dr. Robert Green, the director of the Genomes2People research program at Brigham and Women’s Hospital, who has been paid for consulting from other genetics related companies. “Now by specifically taking their brand into health care, they are inviting the controversy about completeness, about accuracy, about communication, about potential medical miscommunication, about false reassurance — all these different things that we’ve been talking about since 2007.”
The 17 genes included in the AncestryHealth tests include: the BRCA1 and BRCA2 genes, which increase risk of hereditary breast and ovarian cancer; the MLH1, MSH2, MSH5, and PMS2 genes, which lead to Lynch syndrome, which causes hereditary colon cancer; the MYBPC3 and MYH7 genes, which are linked to cardiomyopathy; the APOB, LDLR, and PCSK9 genes, which can cause familial hypercholesterolemia; the HFE gene, which causes hereditary hemochromatosis; the F2 and F5 genes, which cause thrombophilia, a clotting disorder; and the genes that cause sickle cell anemia and cystic fibrosis.
The test will also include results on traits like lactose intolerance and caffeine metabolism, which some experts told STAT were not necessary or appropriate.
Some said that the number of genetic diseases about which the test will provide information is low, and that it’s not clear how patient counseling will work. They also said they have questions about how Ancestry will use the data.
“What people don’t get is that genetics are a tiny piece of the puzzle,” said Dr. David Agus, a professor at the University of Southern California who was an early pioneer in consumer genetics. He points to a statistic that comes from Ancestry’s own research: In a big study conducted with Google (GOOGL) and published in the scientific journal Genetics, genes accounted for less than 10% in differences in how long people lived.
Laura Hercher, the director of research in human genetics at Sarah Lawrence College, said that only 2% of patients who do not have a family history of disease would be expected to learn something medically important from learning about their genomes.
“Some people will get medically useful information from this,” Hercher said. “For most, the idea that DNA testing will help your doctor guide your health decisions is an overstatement.” She called that promise “premature at best.”
Ancestry will be marketing the tests to the 15 million people who have already ordered kits to find out about their family history, in addition to new customers.
The company will have two products. AncestryHealth Core will be a one-time service that will yield data based on a DNA microarray, much as 23andMe does. It will cost $49 for existing customers, compared to $149 for a 23andMe test for health traits. This test will return results once.
AncestryHealth Plus will use next-generation DNA sequencing technology to deliver more detailed information to consumers. Initially, it will focus on the same 17 disease-associated genes focused on by AncestryHealth Core. It will cost $199, and then consumers will need to pay a $49 subscription fee every six months in order to continue getting quarterly updates on their genetic information.
Technically, the AncestryHealth Plus will involve sequencing a patients’ exome, the scientific term for all of the known genes that code for proteins in the body. But Ancestry has decided to return to users only a small amount of the resulting information.
Dr. Eric Topol, director and founder of the Scripps Research Translational Institute, said the American College of Medical Genetics recommends that harmful mutations in 58 genes should be disclosed to people after sequencing is conducted. He noted that Geisinger Health, in its exome sequencing efforts, does this. “It’s minimal,” he wrote of the AncestryHealth Plus test. He called it “a step in the right direction, but not in keeping with consensus and practice in the medical community.”
Catherine Ball, Ancestry’s chief scientific officer, said that the decision to focus on highly actionable diseases results from Ancestry’s efforts to understand the needs of its customers and the primary care physicians who will need to help them react to their test results. The key, she said, was to include only tests that can “improve outcomes for our customers and for their families.”
One big question for patients will be whether they should be getting a different test than the one they choose. For patients who want a BRCA1 or BRCA2 test because they had a family history of breast cancer, the AncestryCore test will only tell them if there is a common “misspelling” in the gene — meaning that many mutations that could cause cancer would be missed. The new AncestryPlus test would be more likely to pick up a problem if it exists. But the patient might be better off with a medical test like the ones made by Myriad Genetics (MYGN) or Color Genomics, which might also be covered by insurance. One of the biggest risks, experts said, is that patients will wrongly think they are at low risk because of an incomplete genetic test.
“The risk, as with the other consumer genomics, is that patients will think this is somehow a comprehensive and encyclopedic investigation of your entire genomic health,” said Green, of the Brigham. But he argued: “Discovering some people who are carrying significant and actionable mutations is better than finding none of them.”
Another issue is how the data will be used if patients consent to research. Can privacy be completely protected? Ancestry said it does not sell consumers data, even in an aggregated and anonymized form, but it may do research with partners.
One problem for patients is that there is simply so much information. More than a decade ago, Agus co-founded a company called Navigenics, which was an early competitor to 23andMe. From the start, unlike 23andMe, Navigenics utilized genetic counselors to make sure that patients understood the results they were getting.
Shortly after launch, Agus remembers getting a call from Steve Jobs. “Agus, you screwed up,” Jobs said. “What do you mean?” Agus asked. Jobs replied: “You can’t tell somebody 30 things at once. The human brain turns off.”
Ancestry, like other genetic testing companies, has also had to determine how best to tell patients bad news — such as that one has a very high risk of breast cancer or ovarian cancer, and should consider a mastectomy and ovary removal. Dorothy Pomerantz, a manager at a boutique content firm, recently wrote for STAT about the bracing experience of learning about her BRCA status after taking a 23andMe test.
After reviewing Ancestry’s materials, Pomerantz was encouraged by the steps the company is taking.“They are at least trying,” she said.
“They are putting an emphasis on genetic counselors and their relationships. But it’s hard to tell what happens when you sit down to do it.”
The devil, Pomerantz said, will be in the details.
An earlier version of this story said that AncestryHealth Core will cost $49. It will cost $49 for existing customers.