Helix, a company formed by Illumina in 2015, has drawn a new section on the blurry line between healthcare and entertainment using direct-to-consumer (DTC) genetic tests. For the surprisingly low price of $80, Helix will sequence a person’s exome, using the same Illumina machines most researchers use. After a one-time saliva submission, Helix clients can choose from a menu of existing analyses from outside vendors that vary from < $100 to about $250. Currently, the Helix website lists 19 different options for clients to learn about their DNA. They include one that uses DNA information to inform which wines are likely to be appealing and another for learning carrier status for a host of mutations that are associated with disease (e.g., cystic fibrosis) for future children if both parents are carriers. As Helix adds more vendors, clients will have the opportunity to order additional analyses to learn more information around their genetic make-up.
Clinical applications of genetic/genomic testing are potentially important but, as others have observed, “the current knowledge base . . . to turn the promise of genomic medicine into reality is severely limited.”
On July 11, 2017, the FDA announced Exemptions from Premarket Notification: Class II Devices. The list, which includes more than 1,000 class II devices, includes genomic platforms and tools:
- High-throughput DNA sequence analyzer
- DNA genetic analyzer
- Mass spectrometer for clinical multiplex test systems
- Real-time nucleic acid amplification system
- Complete gene expression profiling accessory reagents
- Quality control DNA materials
So what does this mean for genetic tests?
The rapid rise in the number of commercially available genetic tests, along with the growth of a genomic approach to healthcare, can make you feel as though you are standing at the entrance to a complicated maze. Not only are there currently more than 65,000 tests available, but many of these tests have their twists and turns in the form of classifications and subdivisions, with little to no quality research to prove their reliability, safety, and efficacy. This raises doubts not only about the ethics of performing some of these tests, but about which tests to cover.
Not all genetic tests are created equal. It’s a fact that applies not only to quality, but also to the information that the test reveals. Therefore, it is important to ask: should all genetic tests be assessed the same way? The answer is not a simple “yes” or “no,” but rather the question demands a closer look at the types of variants (changes in the DNA or other biomarkers) the test is assessing. This week, we will highlight the key differences between germline and somatic variants and the implications for tests that examine each.
Genetic testing is seemingly everywhere today. No longer are discussions of tumor profiling, gene panels, genomics and proteomics confined to the scientific realm. Major news outlets cover new advances in genetic testing, as well as some of the hidden risks associated with their exponential growth in the consumer market (See our blog Evidence Shines a Light on the Hidden Dangers of Genetic Testing). Technical innovations, such as next-generation sequencing, have accelerated the development of such tests. Consequently, there is increasing demand on you as both physicians and payers to provide your patients and clients with the best possible test solutions. But how do you decide? There are three essential criteria to consider when making your determinations regarding genetic testing.
Like it or not, electronic medical/health records (EMR/EHR) are here to stay. As the healthcare world continues to move away from fee-for-service and toward value-based medicine, there is an increasing need to accumulate historical data regarding patient outcomes in order to individualize patient management, treatment, and develop best practices. But as innovative health systems develop and implement programs to take advantage of the reams of data available to them, it becomes clear that there are crucial elements that must be considered.
2016 marked a banner year for our company. We are humbled by the loyalty of our ever-expanding client roster. At the same time, we take great pride in what we’ve accomplished over the last 12 months and we’d like to share some of those endeavors with you here. If you’re new to Hayes, or not yet a member, we invite you to view just a sample of the innovation and growth we’ve experienced as an indication of things to come.
So without further ado…
The field of pharmacogenomics, the study of how genes affect an individual’s response to medications, continues to move full speed ahead, especially in oncology. As investigators learn more about the genetic changes that occur in cancer cells and factors that make them grow and survive, they have been able to develop therapeutic agents that target these factors as well as the tumor’s specific genetic makeup. Targeted therapies are options in several different types of cancer, including lung cancer, melanoma, leukemia, and colorectal cancer.
In a New York Times op-ed piece, Angelina Jolie once again opens up about the tough choices she’s had to make since learning she carries a variant in the BRCA1 gene, one of the genes associated with familial breast and ovarian cancer. Two years ago Jolie chose to undergo a bilateral prophylactic mastectomy and reconstructive surgery. This month, she made another decision—to have her ovaries and fallopian tubes removed. Both procedures reduce Jolie’s risk of breast and ovarian cancer dramatically, but they don’t eliminate the risk completely. We described the risk associated with the gene variant Jolie carries in a blog post entitled, Saving Lives Through Genetic Testing and Prophylactic Surgery.