Most of us have heard of 23andMe, Ancestry.com and other DNA-discovery products. Have you tried it? What did you find out? What should we do with all this info?
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It’s becoming increasingly more popular for people to do home DNA genetic testing. Many reasons account for this with one of the major ones being discovery of your personal risk for a disease.
Direct to consumer DNA testing
The popularity of direct to consumer or DTC genetic testing is surging, “with the global market valued at more than $70 million in 2015, according to one report; that’s up from roughly $50 million in 2014. One company, 23andMe, has even gained Food and Drug Administration approval to provide information regarding whether you're a genetic carrier for some disorders, including sickle cell anemia.” How is all this information developed?
What is whole genome sequencing?
Whole genome sequencing involves the rapid sequencing of large amounts of DNA. Frederick Sanger was a British biochemist who won the Nobel Prize in Chemistry. In 1980 he shared half of the chemistry prize "for contributions concerning the determination of base sequences in nucleic acids". The other half was awarded to Paul Berg for his fundamental studies of the biochemistry of nucleic acids, with particular regard to recombinant DNA. However, although it has been proven to be very complete, it is also extremely expensive as well as time-consuming.
How are direct to consumer DNA testing regulated?
So, the history of DTC genetic testing goes back to the early 2000’s when several companies began to offer consumers the opportunity to find out specific risks for certain diseases. However, in 2010, the Federal Drug Administration sent out letters to the top four companies informing them that their products “constituted medical devices that had not been submitted to the FDA for approval. On July 22 of that year, the House Committee on Commerce and Energy convened a hearing on DTC testing. In his opening statement, Representative Henry A. Waxman stated that government scrutiny was necessary to “ensure the public is protected against exaggerated claims, abusive marketing, and practices that threaten individual health and safety.” In November 2013, the FDA went a step further and sent “cease and desist” letters to several DTC genetic testing companies, ordering them to immediately discontinue marketing and sales of their health-related testing services until they received FDA authorization for these devices.”
In 2017, 23andMe was approved by the FDA as an approved medical device. Here is what the current scenery is regarding DTC genetic testing:
FDA exercises regulatory discretion
Increasing medical integration
Analytical validation required
Panel content regulated by risk level
User comprehension validation required
Greater separation between health and entertainment
Should you invest in a DTC genetic test? Or go to your medical provider?
Curiosity or concern for the possibility of a certain disease are two of the most frequently used reasons to pursue DTC genetic testing? However, should you go to your medical provider instead? Medically ordered genetic testing does come with some advantages:
Quality assurance
Medically provided guidance as to your risk factors
Once results are available, you have more medical guidance as to the importance of the results
Privacy with regards to the results
Some of the advantages of DTC genetic testing:
Cheaper than medically ordered testing
Can be done in your own home
Faster results
However, what is done with the results? Medically ordered genetic testing is covered by HIPAA. So, what about DTC testing? “The Genetic Information Nondiscrimination Act (GINA) was signed into law on May 21, 2008 and became fully effective November 21, 2009. GINA prohibits discrimination by health insurance companies and employers based on “genetic information.” In this case, “genetic information” is defined as: your genetic test results; your relatives’ genetic test results (up to and including fourth degree relatives); and/or information about family history of any disease or disorder. Information about your participation in research that includes genetic testing, counseling, or education is also protected.”
What’s in the future?
The future is wide open to developing more DTC genetic testing as more and more companies jump on the wagon of people making their own decisions about genetic testing. Is it right for you?
