Under the Microscope: Genome Medical

Why Avestria Invested in this Genetic Health Startup

In this series, we explain why we invested in our current portfolio companies. In the process, we hope to highlight the white spaces in women’s health and the life sciences — as well as the people, products, and companies working to fill those gaps. The name “Under the Microscope” refers both to our extensive due diligence process and our investment focus on healthcare and the life sciences.

On February 12, 2020, at the UN Headquarters in New York City, Lisa Alderson addressed the United Nations General Assembly at the 5th International Day of Women and Girls in Science Assembly. Lisa is no stranger to advocating for women in the sciences, but, despite her parallel interests with Avestria, we didn’t get a chance to work with Lisa until 2020, when we invested in her life science company, Genome Medical.

Genomic medicine, Genome Medical’s specialty, is the use of an individual’s genetic information to help drive their health care, specifically diagnoses and treatments. “The era of genomic medicine” arguably started with The Human Genome Project, which took place from 1990 to 2003. During this time, researchers sequenced the base pairs (the rungs in the DNA ladder) of the human genome: all 3+ billion of them. “Sequencing” DNA determines the order of the four bases (adenine, guanine, cytosine, and thymine) to show what kind of genetic information is carried in that specific DNA segment. One common example is BRCA1 and BRCA2: mutations in these genes are associated with increased risk of breast and ovarian cancers and account for about 5% of all breast cancers and 10–15% of all ovarian cancers. Women who have those genes are often advised to adjust their healthcare accordingly: they might increase the frequency of screenings for breast and ovarian cancer or choose preventative treatments, such prophylactic mastectomy and oophorectomy, which reduce incidence of breast cancer and ovarian cancer by over 95% and 80% respectively.

The Human Genome Project cost the United States $2.7 billion. By 2020, the cost for sequencing an individual’s whole genome had fallen to about $1,000, largely because of improvements in testing technology. Sequencing only specific parts of the genome — for example, looking for BRCA 1 and BRCA 2 mutations or other hereditary cancer mutations — can bring costs down to $300 or less.

As testing technology advances have expanded the availability of clinical genetic testing, direct-to-consumer genetic companies have also substantially raised the public’s awareness of genetic testing in general. In 2015, fewer than 1.5 million individuals across the world had taken at-home genetic tests. In 2019, that number increased to 26 million. By 2027, the global genomics market is projected to reach $82.6 billion.

However, all genetic tests are not equivalent. A test ordered from a direct-to-consumer company is very different from tests that medical providers offer to assist with diagnosis or treatment of a disease or to identify increased health risks. As researchers discover more genetic markers associated with increased risk of disease, a medical expert’s knowledge is vital in helping to understand what tests should be ordered, what the results show, and what healthcare decisions may await.

In contrast to this increasing demand, though, there is a still a shortage of genetic knowledge from primary care physicians and other healthcare providers — and a global shortage of genetic clinicians to plug this gap. A 2019 study found that only 23% of 130 primary care physicians who participated indicated comfort discussing genetics as a risk factor for common diseases. These results echoed a 2013 study, which revealed physician’s uncertainty regarding when to order tests, how to interpret the results, how to maintain privacy, and how to counsel the patient. Finally, a study in 2014 found that, when genetic clinicians reviewed the genetic tests ordered by healthcare providers, they changed about 26% of the tests ordered and saved the referring healthcare institutions an average of $48,000 per month.

Genome Medical accelerates access to genetic clinicians and recommended genetic testing.

Genome Medical was founded in 2016 by Lisa Alderson, Randy Scott Ph.D, and Robert Green MD, MPH. The company, the first nationwide medical practice specializing in genetic medicine, has built a Genome Care Delivery™ platform and the largest nationwide network of genetic clinicians to offer expertise across six specialties: cardiovascular, oncology, health screening, reproductive health, paediatrics and pharmacogenomics.

With this expansive expertise, Genome Medical fills in the knowledge gaps that primary care physicians and other treating providers often have about genetics and genetic testing: an approach that supports the accelerated application and integration of standard-of-care genetics into everyday health care. Genome Medical can also offer patients speed, ease, and efficiency throughout their whole genomic journey: from providing appointments within 48 hours instead of the industry average of 4 weeks, identifying the appropriate tests (and reducing medical waste and medical costs as a result) and, through its emphasis on screening, finding and targeting high-risk patients efficiently.

Genome Medical sits on the intersection of genetic health and telehealth, both massive and constantly growing markets. Telehealth allows patients to use technology such as their cell phones and computers to access health services and providers rather than doing so through face-to-face, in-office appointments. Genome Medical’s online appointments and secure video consultation and chat offerings allow its serves to reach underserved areas, thrive during COVID-19 lockdowns, and position it as an already-established force to respond to the increased acceptance of telehealth services.

The company is backed by some prominent names in venture capital, such as Canaan and Kaiser Permanente Ventures , and we were thrilled to join them in March 2020 when we invested in Genome Medical’s Series B round. As information about genetic markers and diseases grow, as the clinical utility of genetic testing continues to increase, and as genetic counselors become essential in interpreting those results and driving personalized healthcare plans, we’re pleased to support both a company leading the way in this field — and the pioneering and dedicated woman in science at its head.

At Avestria Ventures, we look for early-stage women’s health and female-led life science companies with products or technologies that improve healthcare quality and/or access, lower costs, induce clinical or behavioral change, are evidence based, have scalable commercialization plans, and have a sustainable competitive advantage. Know one? Contact us via our website, LinkedIn, or Twitter.

Investing in early-stage women’s health and female-led life sciences companies.

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