Seventeen-year-old Denise Bartley of Mapleton, Utah, was the second child in her family to exhibit symptoms of heart failure. Her condition, cardiomyopathy, left her heart dilated and weak. She struggled with a constant shortness of breath and lost her stamina for exercise.
Bartley had watched her brother succumb to heart failure just a few years before when he was only 16. He received a heart transplant in time to save his life. When two of Bartley’s cousins died a short time later from cardiomyopathy, the family began to recognize a pattern.
Bartley’s uncle contacted researchers at Baylor University in Waco, Texas, and offered up his family members for a study that could identify genetic markers linked to cardiomyopathy. Because the family had 46 members spanning four generations — a large sample size — the researchers jumped at the chance.
Everyone in the family, including Bartley, agreed to blood tests and echocardiograms. But the test results were inconclusive. All the family received from researchers was a copy of the published academic article and a family chart. Those who had the genetic markers for the heart defect were shown as black boxes on the chart — but with no names or other distinguishing characteristics.
“We still didn’t know who had the gene in the family until people started getting sick. If we had known, the doctors could have put me on heart medications sooner,” Bartley told LifeZette.
Twenty years later, Denise Bartley is still living with decreased heart function. Only recently have researchers identified the genetic anomaly that leads to her specific brand of cardiomyopathy.
[lz_ndn video =30505874]
Such is the progress of traditional genetic research — a long slog through 20 years and inconclusive results. But with the advent of commercial and consumer testing, genetic research is undergoing rapid change and improvement. Companies such as 23andMe, which is privately held, are giving customers access to a personal genetic path while simultaneously compiling an enormous database of information that accelerates research.
Consumers can now order a saliva collection kit online from 23andMe for $199. After mailing in the sample, in 6 to 8 weeks’ time you receive an email with the 60-something genetic reports, which include the percentage of your Neanderthal DNA and novelty information about food preferences, cheek dimples, and the likelihood that you have a unibrow.
The reports also include information about whether you’re a carrier for 35 different serious disorders, but some say this information can be misleading.
[lz_related_box id=”108138″]
Dr. David A. Sweetser, chief of medical genetics and metabolism at Massachusetts General Hospital, told LifeZette that “the test only looks at a few of the many potentially harmful changes a person could have in these genes. Thus, having a normal test does not mean you cannot have a child affected with one of these conditions.”
He added, “Genetic testing can be extremely powerful. For instance, we can tell at birth whether a child has a mutation likely to cause severe life-threatening reactions to certain anesthetics.”
However, genetic variation can also be ambiguous. “There are many conditions that are multifactorial, meaning the genes only tell part of the story and the manifestations may depend on many different genes and interactions with the environment.”
Because of the ambiguity and complexity of these tests, Dr. Sweetser said genetics counselors usually spend upwards of two hours explaining the results.
The company 23andMe offers information on genetic counselors to its customers. Since it provides the only direct-to-consumer genetic test product on the market, consumers could still decide to make drastic medical decisions based on their test results. Anne Wojcicki, founder and CEO of the company, shared with the media that at least one woman opted to have a double mastectomy because her reports listed her at risk for breast cancer (23andMe no longer provides reports showing one’s risk for breast cancer).
The complexity of the human genome means that even if your genes say you’re at risk for cancer — that isn’t always the case in your actual physiology. That important nuance was one reason the FDA in November 2013 said the company’s saliva test kit was in violation of federal marketing guidelines and its health reports were taken off the market.
[lz_related_box id=”95218″]
In the wake of that, 23andMe did extensive renovations to boost user comprehension. One of the most significant developments is an online database of genetic information. Customers have the choice to allow their information to become part of the database, which can then be used to accelerate research — but “choice” is the operative word here. For those worried about privacy, 23andMe states on its website that it “will not share your individual-level information with any third party without your explicit consent.”
Whereas traditional genetic studies often take as many as 10 years to find enough patients, the 23andMe database of over one million “genotyped” individuals (80 percent of whom have given consent to participate in research) places a staggering amount of genetic data at the fingertips of researchers, according to a spokesperson from 23andMe. This allowed 23andMe to participate in a study that uncovered two new genetic markers for Parkinson’s disease in only a year-and-a-half. That’s less than one-tenth the time it took researchers to identify the genetic marker for cardiomyopathy in Bartley’s family.
“What 23andMe did in a matter of years would have taken several decades and tens of millions of dollars” if done conventionally, said Haydeh Payami, a neurodegenerative disease researcher at the New York State Department of Health’s Wadsworth Center, in a media release.
And hospitals are following suit. Massachusetts General Hospital is teaming up with Brigham and Women’s Hospital and Spaulding Rehabilitation Hospital to create Partners Biobank, a genetic database that links genetic data to clinical data and medical records as well as survey information from patients.
[lz_related_box id=”96720″]
“The power of this resource is the ability to link genetic data with the vast amount of clinical data available and to be able to efficiently use this information to study large numbers of patients with specific conditions,” said Dr. Sweetser.
While these genetic databases are the gold standard for research teams, some patients still feel their privacy may be in peril.
“I’m not thrilled about being part of the database,” Bartley said. “I don’t like people knowing my preferences and stuff. It’s too ‘Big Brother’ for me. I like my anonymity.” Bartley noted today that if she ever received testing from 23andMe, she would opt out of the database.
For those with more questions about how their privacy is protected when they embark on a personal genetic discovery, 23andMe explains the following: “You choose how your genetic information is used and shared with others. We tell you how those choices are implemented and how we collect, use and disclose your information.”
The company also says, “We support the Genetic Information Nondiscrimination Act (GINA) and other similar laws that protect individuals from being discriminated against based on their genetics and will not provide your information or results to employers or health insurance companies.” It says it has “guidelines and policies in place to protect the personal information of children as well as incapacitated or deceased individuals.”
Buried in smaller print, however, on the website are these words as well: “There is a very small chance that someone with access to the research data or results could expose personal information about you.” It adds, however: “23andMe has policies and practices in place to minimize the chance of such an event.”
And it notes, importantly, that “choosing not to give consent or withdrawing from 23andMe Research will not affect your access to your Genetic Information or to the Personal Genome Service.”
This article has been updated.
Join the Discussion
Comments are currently closed.