The adoption of genetic services is key to our ability to provide personalized medicine in the future. The goal is to better diagnose diseases, predict their outcomes, and to choose the best possible care option for a patient. Our part here at Golden Helix is to essentially build the equivalent of an MRI for the genome. In this process the latest research on disorders is combined with our understanding of the best treatment option at any given time.
VarSeq supports both gene panel based diagnostics as well as the application of clinical workflows based on Next-Gen sequencing data. Working closely with our clients in research hospitals across the world, we were able to incorporate the knowledge we gained from applying SVS in clinical settings over the last several years to VarSeq.
Over the next few weeks we will share more news with you about VarSeq, including demonstrations at the 64th Annual Meeting of the American Society of Human Genetics (ASHG) in San Diego – please stay tuned.
In order for NGS data to become broadly used in a clinical setting other factors have come into play. This is not only about producing a state-of-the-art software package, but also about accelerating clinical testing based on whole exome and genome data. Some of our additional considerations:
- Regulatory Environment: This is a wide open field. The FDA is paying increasingly attention to this field. Very publicly, it engaged with 23andMe to review their processes and procedures. While this gives the adoption process a pause in the short-term, it might mean that in the mid and long term, we can hope for a consolidated governance, protecting patients while enabling clinicians to make informed decisions.
- Reimbursement: The adoption of these test in the clinic hinges on the ability for doctors to recover the expense for genetic tests. For this to occur, the quality of the results produced from these tests must be at a very high and reliable level. Also, price points need to become reasonable for payers to accept these tests as part of standard care.
- Physician Education and Acceptance: We are facing the need to educate a wide range of health care specialists involved in designing, conducting, interpreting, and utilizing genetic tests: translational researchers, pathologist, geneticists, genetic counselors, biostatisticians etc. This also includes the personnel supporting these professions such as nurses and assistants.
We share the optimism in our field that these issue will be resolved quickly. Already today, there are a few areas where adoption is expected first with significant testing volume:
- Rare diseases
Beyond these areas, there is strong potential in areas such as obesity, diabetes, and cardiac disorders. In addition to this, there is a huge uptake in adoption expected in the area of pharmacogenomics to determine safety, efficacy, and cost of care. New applications of genetic testing will result in changes to current care teams and processes. It will reshape how pathologists, oncologists, geneticists, genetic counselors, biostatisticians and bioinformaticians work together.
For over fifteen years, we at Golden Helix have provided tools for the research community to better understand the underlying mechanisms that cause disease. As our field is ripe to take the next step, we will do the same for clinicians, genetic counselors, and any other medical specialist in need of the best possible tool which consistently creates a reliable, clinical diagnosis. By doing so, we have the opportunity to improve patient outcomes and help fight the diseases of our time such as cancer, Alzheimer’s, and diabetes.