Genetic testing has gone mainstream — consider examples like 23andMe and even Ancestry.com, which both offer genetic analysis by mail — and the market is on track to exceed $10 billion in the next several years. Carter Williams, iSelect CEO, even ran into a group of “gene hacking” enthusiasts at a recent investor event in Phoenix, writing:
“These young people not only are using 23andMe, they are working with ‘biohackers’ that dig deeper into their bodies to help them balance out the ‘right’ set of vitamins, drugs, probiotics, food, etc so that they can be at their healthiest. As they bounced around talking about hacks, I felt like a parent going through a teen’s web browsing history, discovering a world I didn’t know existed.”
According to reports, by 2022 there will be nearly 70,000 different genetic tests for more than 10,700 different conditions available on the market. These will be conducted on 16,226 different genes in nearly 500 labs by that point.
But this rapid expansion into all fields of medicine is causing a problem: a shortage of genetic counseling professionals.
Genetic testing isn’t, for the most part, a hands-off process. Many of the conditions being tested for are serious and life threatening, and care must be taken to both walk patients through the process while also delivering the news in a caring, holistic way.
These aren’t test results that anyone wants to receive in an impersonal email.
Shelley and David, a young couple, were planning to start a family, but David had a 24-year-old sister who suffered from Cystic Fibrosis. Cystic fibrosis (CF) is a devastating disease that often strikes victims in the first few years of life, causing serious lung problems and often shortening their overall life span. A genetic condition, it is passed down through families that possess the necessary mutation and is one of the most common inherited conditions, affecting one in 3,300 people. One in 29 people is a carrier of the gene mutation.
As what is known as an autosomal recessive condition, children whose parents both carry the gene mutation for the disease are at a 25% risk of being affected by it. David was worried that, since CF was already in his family, any children that he and Shelley might have would be at an increased risk of inheriting the condition.
So they decided to get their genes tested.
The results revealed that, although Shelley had no family history of CF, she carried one of the necessary mutations to cause CF. David, on the other hand, despite his family history was not a carrier of a CF mutation. His sister, as it turned out, only had one identifiable CF mutation and doctors were unable to say with 100% certainty whether or not David could pass CF risk down to his children based on her second unknown mutation, so the couple eventually decided to become pregnant using donor sperm in order to eliminate any potential risk.
Shelley and David’s story is far from unique. CF mutation is such a common genetic condition that screening for the known mutations has become a standard part of family planning, and it is just one condition that doctors now screen for on a regular basis. Every U.S. state requires that newborns be screened just after birth to identify genetic disorders that might be treated immediately, including phenylketonuria, which causes intellectual disabilities and congenital hypothyroidism, a disorder of the thyroid gland.
There are currently thousands of genetic tests in use, with more being developed every year, to diagnose or predict everything from kidney diseases, to Huntington’s disease, to Sickle Cell Anaemia, hemophilia, certain cancers and much more.
However, these tests can be emotionally difficult for patients, raising a number of concerns that they may not have considered. As a result, they require careful help as they work through the process to make an informed decision and make sense of their diagnosis, counseling that doctors alone are generally unable to provide.
That’s why genetic counseling is one of the fastest-growing fields in healthcare. Counseling is needed before and/or after testing for the estimated 10 million-plus patients who are being tested around pregnancy planning, cancer diagnosis, heart disease risk, neurological conditions, pediatric conditions, medication management, preventative care and more. Genetic Counselors help patients choose the best test methodology, find optimal testing laboratories, compare tests costs, obtain insurance prior authorization and interpret genetic tests results.
But there aren’t enough of these counselors available today, and the problem is only going to get worse.
By 2029 there is expected to be a severe shortage of counselors available, forcing patients to wait six months or more for their results. As of today, 60% of cancer patients aren’t receiving needed counseling about their genetic results and more than 1,000 organizations report an “urgent need” for more immediate access to genetic counseling. Currently it costs hospitals and other care organizations approximately $100,000 each to hire an on-site genetic counselor, who can only handle so many cases at one time.
The market is ready for a new model.
Scaling genetic counseling
The answer may lie in digital healthcare.
As of 2017, roughly seven million patients receive some level of medical care via telemedicine — which includes digital, online, mobile, video and other healthcare delivery technologies — representing a 20x increase in just the last five years.
GeneMatters, a startup out of Minneapolis, is working to bring this technology to the genetic counseling market, offering remote access to on-demand, expert genetic counselors. On top of this, the company also has a SaaS platform that significantly reduces the time it takes for a counselor to complete a session by automating many of the repetitive tasks associated with counseling an individual patient, thereby increasing the number of patients each counselor can advise. In this way, the company is offering a cost-effective, scalable solution to the critical need for more genetic counseling support.
GeneMatters’ counselors deliver personalized counseling sessions to patients via telephone, eliminating the need for travel or wait times, and their services are matched to each patient’s specific medical need. They have the expertise to offer genetic counseling for a long list of medical concerns and genetic tests, and the company’s proprietary technology can be integrated directly with each organization’s’ customer relationship management (CRM) and electronic medical record (EMR) systems.
It’s scalable. It’s customizable. And, as a SaaS product, GeneMatters can serve a wide range of different customers without sacrificing quality of care.
For providers: Healthcare providers don’t necessarily want or need to hire full-time genetic counselors today because it can be costly and hospital leaders aren’t yet sure what their demand for these services is going to look like down the road. The GeneMatters platform allows them to essentially hire on an as-needed basis, increasing overall efficiency by 4x to 5x. This is helping to solve a resourcing solution for hospitals and genetic testing labs, so that they can continue to provide testing services while simultaneously expanding their counseling support at a cost lower than they would be able to otherwise.
For consumers: On the consumer side, the efficiency of the GeneMatters platform increases the availability and efficiency of genetic counseling, thereby decreasing patient wait times for results. It is also increasing access in places where genetic counseling would otherwise be unavailable or cost prohibitive.
Demand for genetic testing is growing substantially, and genetic counseling is vital for patients to understand their testing results. However, genetic counselors are in low supply today and are expected to be even more resource constrained for the next 10 years or more. GeneMatters is creating a software/telehealth platform to optimize the reach of the genetic counselors we have today to help meet this increasing demand and offer providers a solution to scale up their services over time.