Advances in the sequencing of the human genome combined with improved technologies for biomedical analysis and new tools for using large datasets have set the stage for a new era in medicine. The focus is shifting to even earlier prevention of disease, and genetic testing for wellness and longevity.
Consumers have a growing number of choices for genetic testing. But with more choice comes more confusion. There is growing pressure on providers to order tests and provide access to genetic counseling. However, genetic counselors are struggling to keep up with the demand, and consumers can find themselves faced with unanticipated and sometimes lengthy wait times.
Consumers and providers are also not prepared to accurately anticipate costs for tests insurers are still deeming “experimental.” As Chrissy Farr of Fast Company reports in Why Patients Are Getting Hit With Surprise Bills After Genetic Testing, “Insurance coverage of genetic testing is an under-appreciated, but huge and important question.”
Types of genome sequencing
Whole genome sequencing (WGS) focuses on all DNA in an individual’s genome. Targeted sequencing focuses on specific areas of interest within the genome. For example, exome sequencing (WES) focuses only sequencing the genes in a genome. Because genes make up only about two percent of the human genome, testing is faster and less expensive.
Genetic testing for cancer risk is used to identify the five to ten percent of hereditary links to cancer, but not everyone who inherits a genetic mutation will develop cancer. Ten to 30 percent of causes of cancer are also familial, meaning an individual is linked by a close or distant relative to the cancer. These links could be due to chance, exposure to toxins in the environment, or lifestyle choices.
Environmental factors and personal lifestyle choices also directly affect an individual’s predisposition or diagnosis.
The growing trend is using genetic testing for individual coaching and employee wellness programs to help individuals control their behavior and environment to lessen their risk for disease, improve their quality of life, and even increase longevity.
Veritas Genetics recently introduced whole genome sequencing, myGenome, for $999 that includes genetic counseling, and can be viewed on a smartphone. Testing is limited to 5,000 people in 2016. CEO Mirza Cifric says:
We live in the world where one day we are healthy and the next we are sick. We believe that everyone can be healthier, and understanding your genome can lead you to incorporate this information in everyday decisions to improve your health and quality of life. Genome is also an asset for life that individuals can come back to as more information becomes available.
Genetic testing: a prescription from your doctor
Cifric points out that myGenome is a screening test, and not a diagnostics test. However, testing does require a prescription. The prescription from a physician or provider is what distinguishes a product like myGenome from direct-to-consumer genetic testing (DTCGT) by 23andme and AncestryDNA.
On the heels of the Quantified Self movement and patient-generated data from wearable tech, physicians and providers can now expect the next deluge of data to come from patients seeking genetic testing for health and wellness.
Newtopia offers a personalized wellness program for employers that includes voluntary genetic testing. It recently published the results of a three-year study involving 445 employees of Aetna in the Journal of Occupational and Environmental Medicine. Newtopia chief executive Jeff Ruby also stresses that its genetic testing is not diagnostic, but a motivational tool. It does not share any individual data with employers, and key findings from the study can be found here.
Pathway Genomics offers genetic testing for health and wellness, pharmacogenomics, liquid biopsy, hereditary cancer and carrier screening. According to the company, its program with IBM Watson is the first to merge artificial intelligence and deep learning with precision medicine, for both the consumer and provider. A sample test can be viewed here.
Innovation in genomics and the future of medtech
Dr. Lavinia Ionita, CEO of Omixy, wrote a detailed article on the companies innovating in genomics and the future of medtech for TechCrunch. She says, “These innovations are undeniably leading to unprecedented opportunities for better health — an issue that’s demonstrating great appeal with more and more VCs and business angels.” Dr. Lavinia explains how the definition of “early” cancer detection is changing, how we will get a better understanding of genomics through deep learning and AI, and how DNA testing will continue to get faster, smaller and cheaper.
Synthetic DNA production has already started, and the latest advance in CRISPR gene-editing “can switch single letters of the genome cleanly and efficiently, in a way that they say could reliably repair many disease-causing mutations.”
All these breakthroughs show that the coming year is going to be full of opportunities for innovators, and the medtech industry at large. Everyone, whether patient, medical professional, politician, entrepreneur or investor, has a part to play in the genomic revolution. The societal impacts of such innovations and the need for better data-collection make it crucial for all stakeholders to move forward in a collaborative effort.– Dr. Lavinia Ionita
How will genomics data be used?
Veritas’s Cifric told me,
Our hope is that most individuals will agree to donate or contribute their anonymized genome to further research through efforts such as PGP, personalgenomes.org.
We see this as part of our mission, to move the needle on societal understanding of diseases and biology by contributing versus creating walled gardens of information.
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