- The genetic test market has grown rapidly in the 15 years since the human genome was mapped, totaling about 75,000 different tests today. And each day, about 10 new tests enter the market, according to a new Health Affairs analysis.
- To better understand how genetic tests are used and paid for, the researchers reviewed unique data sources on test availability and private insurer spending from 2014 through 2017, looking in particular at tests that measure multiple genes.
- Prenatal tests constitute nearly 40% of genetic test spending, followed by hereditary cancer tests at 30%. A little more than 10% of spending is for tests related to cancer diagnostics and treatment.
Single-gene tests accounted for just 10% of all spending on genetic tests. The lion’s share (70%) was for multiple-gene tests, fueled by a combination of unmet medical needs and advances in sequencing technologies, the study says.
Genetic tests are a hot topic right now. Scientists and doctors are looking beyond a one-size-fits-all healthcare approach to drugs and diagnostics informed by specific genetic footprints and mutations. The goal is a more personalized and precise outcome for the patient.
Earlier this month, the National Institutes of Health launched its All of Us initiative aimed at signing up 1 million people to advance precision medicine. The program will collect information on participants’ health, lifestyle habits and living and work conditions, forming a database that researchers can probe for insights on patients’ responses to different treatments.
Health systems are also starting to embrace the promise of precision medicine. In a keynote at HLTH 2018 this week in Las Vegas, Geisinger CEO David Feinberg announced the physician-led system will start offering patients whole exome sequencing, or genomic sequencing, free of cost.
The initiative, which builds on a five-year-old collaboration with Regeneron Pharmaceuticals, aims to recruit 1,000 patients over the next six months — with the goal of making DNA sequencing a routine care practice.
But challenges remain to widespread use of genetic tests, including high costs (about $1,000 for a complete genome sequencing test) and spotty reimbursement, the study says. Other challenges include a fragmented clinical lab industry, questions about the how to implement tests in clinical practice and the usefulness of tests based on actionable mutations.
One area of interest in genetic testing is preconception screening for genes that carry hereditary diseases. In a commentary on a different study in the same issue of Health Affairs, the authors note such screening tests don’t seem to increase anxiety in low- and moderate-risk individuals.
“Nevertheless, it remains unclear whether the costs and resources needed to screen a high number of couples (most of whom will screen negative) will outweigh the clinical benefits of identifying a small number of couples with actionable information or the personal benefits to patients who are found to be at low risk,” they write. “Addressing such questions is central to assessing a screening program.”