by Aviva

DNAWeekly Uncovers Phosphorus' Ultimate Mission

DNAWeekly Uncovers Phosphorus' Ultimate Mission

Co-Founder and CEO of Phosphorus Alexander Bisignano believes that working with specialists and patients and teaching them his technology is what sets his organization apart.

DNAWeekly: What is Phosphorus’ mission?

Alexander Bisignano: Phosphorus is a genomics company whose mission is to improve human health. Phosphorus is a spin-out from my previous company called Recombine which had worked in the reproductive genetics field. One of the fundamental issues that we identified when we started the company is that access to genetic testing and application of genetic testing in medicine is, in some ways, extremely limited. Fewer than 4% of the US population has reported actually ever having had a medical genetic test as part of their healthcare decision making. So, we wanted to address what we see as the technical, social, and health care limitations that are preventing people from getting access to this technology that could really improve their lives.

DNAWeekly: What was the motivation that led you to found this company?

AB: I had worked for four or five years in reproductive genetics, working with OB-GYN offices, infertility clinics to offer expanded carrier screening. We help couples identify and prevent diseases like cystic fibrosis or Tay–Sachs from passing to their children. And through that experience, I learned about the challenges with a lack of evolution in medical policies to reflect where the science is in genetics, inability for the average person to easily access genetic testing, and some of the technical limitations of tests that had been developed now many years ago versus what we were capable of doing.

We felt that by developing the most comprehensive medical genetic test for things that we can predict well—well-understood monogenic diseases, drug responses, and genetic mutations—that we could also then help provide expert guidance for either intervention management or care.

We built a test called Phosphorus One that has just over 400 genes targeting the part of the genome we understand the best from a medical perspective. From there, we integrated experts to be involved in the process. Now we have physician authorization, sign off, and genetic consultation available to all customers in the United States who order this test.

DNAWeekly: Do you think that genetic testing is well understood by the public, and do you think that people are starting to understand the benefits of it?

AB: I think it’s a challenge. On a high level, conceptually, people are starting to understand that they can use genetics to predict their medical future. What we are trying to do is identify these diseases before they happen. I think the specifics of what is available are sometimes over-represented or underrepresented.

Recently, we have had more and more requests for testing for neurodegenerative disorders in the medical institutions we work with as well as from the patients directly, and I think that’s something that people are starting to understand. The US government within the Medicare Advantage program started to provide reimbursement to us so we’re seeing a convergence of factors where people are becoming more educated. But we’ll still get many consumers who ultimately still need quite a bit of education. And thankfully, we’re partnered with some of the top genetic counselors and genetic counseling companies in the United States that has allowed us to take an education first approach to how we provide testing.

DNAWeekly: What makes Phosphorus different from its competition?

AB: We have to look at the segments of where these companies exist. There’s an entire segment that I’d call consumer and ancestry, which is probably the most well-known; 23andMe is the pioneer of that field, and Ancestry DNA is one of the largest ones.

Within the consumer ancestry industry, these are not tests that really provide anywhere near the standard of medical insights like a test like ours.

When we look within companies that do utilize genetics, for medical purposes, again, getting people to try and take proactive measures towards very serious diseases like inherited cancers, cardiomyopathy, arrhythmias, neurodegenerative disorders, most of these companies within the United States operate as classical reference labs, and they’re essentially just waiting for physician referrals.

The problem in the United States is that the medical guidelines that govern physician referrals are outdated. They’ve been around for many of these diseases for well over a decade. And they would oftentimes not provide for reimbursement, or for physicians to order these tests until after patients are symptomatic or meet a severity of symptoms—and that is onerous.

An example I can give you is that certain medical policies or even insurance reimbursement guidelines will wait for patients to hit a very high total cholesterol level before even recommending or suggesting that they will reimburse the test for familial hypercholesterolemia, which affects one in 200 individuals and causes these individuals to die from heart attacks at an alarmingly high rate before the age of 50.

So again, the systems that exist and the way that most companies are built within these systems oftentimes makes it so that patients or consumers really can’t access this technology until it’s too late.

In our business model in working with progressive providers in helping to outfit and educate specialists and then helping patients to be educated and have direct access to consumers, that’s what we think is going to help move the needle and get more people tested sooner.

DNAWeekly: What do you think about the future of this industry?

AB: I think we’re going to see everything change and stay the same, much like we have for the past five years. I think that on the federal level, we’ve seen some movement in areas of reimbursement that have been compelling and hopeful. One of the predictions we’re making is that providers are going to jump into the testing game as well. And this is going to help get more people tested.

For us, though, more than 50% of our business is what we call technology licensing. So, we’ll license our actual genetic testing technology, our software, our chemistry to hospital pathology labs, and to specialty practices like urologists and fertility clinics. We’re helping them build their own genetic testing labs on site. The process of doing this for these hospitals or for these private practices helps educate the physicians about when they should be ordering genetics to enhance their patient care above and beyond what their peers are doing. And it gives them that ownership and alignment so that we’re seeing more of these groups better integrate genetics into their day-to-day practice with patients, so I think that’s going to be a near term change.

In the long term, and we have a couple of partnerships that are actually going live, we’re seeing a lot of primary care population health programs being conceived and launched by larger institutions, and I think these are absolutely the future. Having developed the first program like this, I’d see a world where genetics is readily available to anyone when they’re not sick, as a tool in primary care, to say what might go wrong.

There’s a version of this that is going to be a tool to prevent disease for everyone. And we’re starting to see the studies that show that there’s a cost-benefit that clinically this is the right thing to do for patients.

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About Author
Aviva
Aviva

Aviva Zacks is a content writer and editor who loves everything about science. In her free time, Aviva can be found doing crossword or jigsaw puzzles, or baking bread and cookies. Because they are all science.

Aviva Zacks is a content writer and editor who loves everything about science. In her free time, Aviva can be found doing crossword or jigsaw puzzles, or baking bread and cookies. Because they are all science.