Throughout most of her childhood and adulthood, University of Michigan librarian Patricia Anderson has endured the burden of dozens of chronic health conditions, numerous diagnoses, and a high incidence of disease in her family. Signing up to participate in a genetics study changed Anderson’s life because of information she received about a gene associated with an increased risk for Celiac Disease.
“I’ve gone from two grocery bags of prescription meds and laundry lists of diagnoses that couldn’t be treated to much closer to being functional,” Anderson said. “I had been seeing dermatologists. I was in pain all the time. I would walk down the street, and kids would ask their mom, ‘what was wrong with that lady?’ I was just miserable.”
Celiac is known for over eighty symptoms, from fatigue to stomach pain to memory loss. Before participating in the study, Anderson had seen a number of doctors, and received treatments for approximately fifty symptoms of the disease. Yet, it wasn’t until Anderson received her test from 23andMe that a doctor recommended she remove gluten from her diet, relieving her of almost all of her symptoms within months. Anderson is a participant in the PGen study, a 2012 National Institutes of Health study that surveyed 1,600 customers from personal genomics companies 23andMe and Pathway Genomics about their reactions to receiving genetic information.
In January, surveys from the University of Michigan and Brigham and Women’s Hospital at Harvard University found that 94% of customers would seek genetic testing again and that less than 1% could have felt harmed by their results. This finding suggests that the Food and Drug Administration may permit 23andMe to offer more health risks tests and Pathway Genomics to offer direct to consumer testing—genetic tests that are delivered via mail or online—, which has raised concern among genetic counselors across the nation.
The FDA has a complicated decade long history with 23andMe that stems back to the company’s founding in 2008. In 2013, the U.S. Food and Drug Administration issued a cease and desist order, prohibiting 23andMe from giving customers information about certain gene mutations, such as the BRCA1 and BRCA2 genes—associated with an increased risk in breast cancer—and ApoE—associated with an increased risk in Alzheimer’s Disease, claiming that 23andMe didn’t have the authority to distribute results of a medical test, particularly one without absolute predictive power.
As genetic information is becoming more readily available, the demand is increasing. 23andMe has over one million customers. The Research and Markets 2016 industry reports predict the global market for genetic testing will grow to approximately $10.3 billion by 2025. Former President of the National Society for Genetic Counselors and University of Michigan Genetics Professor Wendy Uhlmann believes that direct to consumer tests need to be viewed with caution, and that there are a multitude of issues associated with tests that companies like 23andMe and Pathway Genomics distribute.
“There are some concerns of false reassurances. There could be a completely different condition in the family that needed to be screened for that wasn’t detected,” Uhlmann said. “That could be a limitation of the testing. Having direct to consumer tests be a proxy for medical care is a problem.”
Harvard Medical School genetic counselor and PGen researcher Sara Kalia said that while the study found that most people were pleased with testing, 1% of survey respondents reported they could have felt harmed by their results. Kali said 23andMe and Pathway Genomics need to ensure their products are marketed in a way that is easy to interpret.
“It is important for marketing materials to accurately describe the information that could be learned from the test, its limitations, potential benefits and risks, as well as the likelihood of those benefits and risks,” Kalia said.
To receive a test from Pathway Genomics, a prescription is required, but maybe not for long. Glenn Braunstein is the Chief Medical Officer at Pathway Genomics. He has worked for 26 years at the Cedars-Sinai Medical Center, and has served as chair of the FDA’s advisory committee for endocrinology and metabolic drugs. Braunstein said the findings of the study demonstrate that people understand their genetic tests, and that this finding should be reassuring the FDA that direct to consumer tests are beneficial.
“The PGen showed that by and large people understand their information that is given to them,” Braunstein said. “I think the information we need is, more than anything else, is either regulatory approval or regulatory acquiescence from the FDA.”
The study’s results may strengthen the FDA’s relationship with genetic testing companies, wrote 23andMe Communications Director Rachel Reichblum in an email interview.
“We’re encouraged that 94% of respondents indicated they would do genetic testing again,” Reichblum wrote. “We are constantly working with the FDA to bring new reports to our customers.”
Before 23andMe is permitted to release a new health risk report or Pathway Genomics is able to offer direct to consumer testing, the company must receive regulatory approval from the FDA. Until recently, the FDA approval for tests occurred on an individual test by test basis. On April 7, the FDA authorized a batch of ten health risk assessments including tests for late-onset Alzheimer’s Disease, Celiac Disease, and Parkinson’s Disease.
FDA spokesperson Jennifer Dooren said for any FDA review to be determined, 23andMe has to provide sufficient data to prove that the tests are accurate and that the test’s instructions are easy to follow and understand.
Still, consumers may have little to no background in genetics, and may misinterpret their test results. Before a patient orders a genetic test, genetic counselors discuss with the patient their reasons for seeking testing and the possibility of receiving unwanted information. For example, a patient may be prepared to receive an Alzheimer’s test, but not a test for Huntington’s Disease, a test which is 100% predictive, with results indicating a probable fatal diagnosis.
“Another part of genetic counseling is assessing, how will knowing this test result make a difference in how you live your life?” Uhlmann said. “How will it make a difference in your healthcare or your life decisions, depending on the condition?
The PGen’s findings demonstrate that customers are widely pleased with their results, and are using the data to make positive health changes. When genetic testing will become fully integrated into medical care, genetic counselors remain unsure. Until then, people like Anderson, who are interested in their health and ancestry will turn to 23andMe and Pathway Genomics.
“For me, it totally revolutionized my life. It’s not that I won’t always have chronic health issues,” Anderson said. “I truly believe that without these tests, I would now be on disability.”