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June 14, 2019

The gene genie bursts its bottle

PHOTO | New Haven Biz ’Health Care Disrupted’ panelists (l-r) Murray, Tafuri, Matloff and moderator Ilzarbe Thursday morning in Hamden.
By Michael C. Bingham

The revolution in human genomics over the past three decades is one of the most “disruptive” developments in the history of health care. But the democratization of knowledge about one’s genetic composition — and the widespread commercialization of that knowledge — complicates health-care understanding and delivery in ways that scarcely could have been foreseen when the Human Genome Project was launched in 1990.

That was the subject of a wide-ranging panel discussion that took place as part of the Greater New Haven Chamber of Commerce’s 17th annual Regional Health Care Breakfast & Awards held Thursday morning at Cascade Fine Catering in Hamden. About 250 attended.

Entitled “Health Care Disrupted: Genomics & Personalized Medicine — the Next Evolution in Health Care,” the panel discussion featured representatives from the clinical, commercial and payer sides of the health-care industry. It was moderated by Miguel Ilzarbe, who joined Jackson Laboratory last September as director of operations and administration.

When the human genome was sequenced for the first time three decades ago, the project that made it possible cost about $3 billion, Ilzarbe said. Now, the same process costs about $3,000 — a 100,000-fold decrease in cost. “No other technology has ever decreased in price to that degree,” he pointed out.

One far-reaching consequence of that innovation has been the democratization of genomic data down from scientists to the general population — and a revolution in personalized medicine, Ilzarbe explained.

The magnet for much of the public attention to genomics today is of course off-the-shelf, direct-to-consumer testing product offered by marketing companies such as Ancestry.com and 23andMe.com, which sell genealogies to consumers created from samples taken by DNA kits for as little as $59.

Panelist Michael Murray, MD, director of clinical operations for the newly formed Yale Center of Genomic Health, pointed out that family and personal-history screenings can miss more than 80 percent of cancers present in the person being sampled.

Robert Tafuri, MD, medical operations director for Anthem Blue Cross & Blue Shield of Connecticut, pointed out that a majority of genetic testing of patients takes place in the absence of an actual health-care professional. “Without an MD talking to the patient,” Tafuri said, such testing is of limited value.

Panelist Ellen Matloff is president and CEO of My Gene Counsel, which provides digital genetic counseling for consumers and clinicians. Matloff cautioned that, “If you read the fine print” on genetic tests provided by direct-to-consumer companies like Ancestry.com, “it says the testing is primarily for entertainment” value. Nevertheless, it has tangible value in helping users assemble genealogies and family histories. “If you leave some of your DNA on the table this morning,” she quipped, “we will track you down.”

The event also featured the presentation of the chamber’s annual health-care awards to five individuals and organizations:

• ”Health-Care Superstar” — Aubrey de Grey, co-founder and chief science officer of the SENS Research Foundation and VP of new technology discovery at AgeX Therapeutics Inc., both in California. De Grey is best known for advancing the hypothesis that medical technology may enable human beings alive today not to die from age-related maladies.

• ”Health Care Visionary” — Jonathan Rothberg, New Haven native life scientist and serial entrepreneur best known for founding bioscience companies including CuraGen, 454 Life Sciences, Ion Torrent and, most recently, Butterfly Network.

• ”Health Care Innovator” — Chapel Haven Schleifer Center. Since its founding in 1972, Westville’s Chapel Haven has provided care to adults with developmental disabilities. Now, the non-profit’s historic $60 million campus expansion will allow it to provide lifelong care to residential clients in a non-institutional setting.

• Clinical Program — Headquartered in New Haven, the Connecticut Latino Behavioral Health System provides “culturally relevant” treatment alternatives to the Latino population of south-central Connecticut.

• Well-Being/Wellness — The homeless program of New Haven’s Cornell Scott-Hill Health Center provides medical care and support to the region’s homeless population irrespective of age or length of homelessness.

Contact Michael C. Bingham at mbingham@newhavenbiz.com

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