Many other healthcare systems also are partnering with private genetic testing companies to pursue research that drive precision medicine goals

It is certainly unusual when a major health network announces that it will give away free genetic tests to 10,000 of its patients as a way to lay the foundation to expand clinical services involving precision medicine. However, pathologists and clinical laboratory managers should consider this free genetic testing program to be the latest marketplace sign that acceptance of genetic medicine continues to move ahead.

Notably, it is community hospitals that are launching this new program linked to clinical laboratory research that uses genetic tests for specific, treatable conditions. The purpose of such genetic research is to identify patients who would benefit from test results that identify the best therapies for their specific conditions, a core goal of precision medicine.

The health system is AdventHealth of Orlando, Fla., which teamed up with Helix, a personal genomics company in San Mateo, Calif., to offer free DNA sequencing to 10,000 Floridians through its new AdventHealth Genomics and Personalized Health Program. A company news release states this is the “first large-scale DNA study in Florida,” and that it “aims to unlock the secret to a healthier life.”

The “WholeMe” genomic population health study screens people for familial hypercholesterolemia  (FH), a genetic disorder that can lead to high cholesterol and heart attacks in young adults if not identified and treated, according to the news release.

Clinical laboratory leaders will be interested in this initiative, as well other partnerships between healthcare systems and private genetic testing companies aimed at identifying and enrolling patients in research studies for disease treatment protocols and therapies. 

The Future of Precision Medicine

Modern Healthcare reported that data from the WholeMe DNA study, which was funded through donations to the AdventHealth Foundation, also will be used by the healthcare network for research beyond FH, as AdventHealth develops its genomics services. The project’s cost is estimated to reach $2 million.

“Genomics is the future of medicine, and the field is rapidly evolving. As we began our internal discussions about genomics and how to best incorporate it at AdventHealth, we knew research would play a strong role,” Wes Walker MD, Director, Genomics and Personalized Health, and Associate CMIO at AdventHealth, told Becker’s Hospital Review.

“We decided to focus on familial hypercholesterolemia screening initially because it’s a condition that is associated with life-threatening cardiovascular events,” he continued. “FH is treatable once identified and finding those who have the condition can lead to identifying other family members who are subsequently identified who never knew they had the disease.”

The AdventHealth Orlando website states that participants in the WholeMe study receive information stored in a confidential data repository that meets HIPAA security standards. The data covers ancestry and 22 other genetic traits, such as:

  • Asparagus Odor Detection
  • Bitter Taste
  • Caffeine Metabolism
  • Cilantro Taste Aversion
  • Circadian Rhythm
  • Coffee Consumption
  • Delayed Sleep
  • Earwax Type
  • Endurance vs Power
  • Exercise Impact on Weight
  • Eye Color
  • Freckling
  • Hair Curl and Texture
  • Hand Grip Strength
  • Height
  • Lactose Tolerance
  • Sleep Duration
  • Sleep Movement
  • Sleeplessness
  • Sweet Tooth
  • Tan vs. Sunburn
  • Waist Size

Those who test positive for a disease-causing FH variant will be referred by AdventHealth for medical laboratory blood testing, genetic counseling, and a cardiologist visit, reported the Ormond Beach Observer.

One in 250 people have FH, and 90% of them are undiagnosed, according to the FH Foundation, which also noted that children have a 50% chance of inheriting FH from parents with the condition.

AdventHealth plans to expand the free testing beyond central Florida to its 46 other hospitals located in nine states, Modern Healthcare noted.

Other Genetics Data Company/Healthcare Provider Partnerships

In Nevada, Helix partnered with the Renown Health Institute for Health Innovation (IHI) and the Desert Research Institute (DRI) to sequence 30,000 people for FH as part of the state’s Healthy Nevada Project (HNP).

Helix (above) is one of the world’s largest CLIA-certified, CAP-accredited next-generation sequencing labs. The partnership with AdventHealth offered study participants Exome+: a panel-grade medical exome enhanced by more than 300,000 informative non-coding regions; a co-branded ancestry + traits DNA product for all participants; secure storage of genomic data for the lifetime of the participant; infrastructure and data to facilitate research; and in-house clinical and scientific expertise, according to Helix’s website. (Photo copyright: Orlando Sentinel.)

Business Insider noted that Helix has focused on clinical partnerships for about a year and seems to be filling a niche in the genetic testing market.

“Helix is able to sidestep the costs of direct-to-consumer marketing and clinical test development, while still expanding its customer base through predefined hospital networks. And the company is in a prime position to capitalize on providers’ interest in population health management,” Business Insider reported.

Another genomics company, Color of Burlingame, Calif., also has population genomics programs with healthcare networks, including NorthShore University Health System in Ill.; Ochsner Health System in La.; and Jefferson Health in Philadelphia.

Ochsner’s program is the first “fully digital population health program” aimed at including clinical genomics data in primary care in an effort to affect patients’ health, FierceHealthcare reported.

In a statement, Ochsner noted that its innovationOchsner (iO) program screens selected patients for:

  • Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 genes;
  • Lynch syndrome, associated with colorectal and other cancers; and
  • FH.

Color also offers genetic testing and whole genome sequencing services to NorthShore’s DNA10K program, which plans to test 10,000 patients for risk for hereditary cancers and heart diseases, according to news release.

And, Jefferson Health offered Color’s genetic testing to the healthcare system’s 33,000 employees, 10,000 of which signed up to learn their health risks as well as ancestry, a Color blog post states.

Conversely, Dark Daily recently reported on two Boston healthcare systems that started their own preventative gene sequencing clinics. The programs are operated by Brigham and Women’s Hospital and Massachusetts General Hospital (MGH).

And a Precision Medicine Institute e-briefing reported on Geisinger Health and Sanford Health’s move to offer genetic tests and precision medicine services in primary care clinics.

“Understanding the genome warning signals of every patient will be an essential part of wellness planning and health management,” said Geisinger Chief Executive Officer David Feinberg, MD, when he announced the new initiative at the HLTH (Health) Conference in Las Vegas. “Geisinger patients will be able to work with their family physician to modify their lifestyle and minimize risks that may be revealed,” he explained. “This forecasting will allow us to provide truly anticipatory healthcare instead of the responsive sick care that has long been the industry default across the nation.”

It will be interesting to see how and if genetic tests—free or otherwise—will advance precision medicine goals and population health treatments. It’s important for medical laboratory leaders to be involved in health network agreements with genetic testing companies. And clinical laboratories should be informed whenever private companies share their test results data with patients and primary care providers. 

—Donna Marie Pocius

Related Information:

It May Be Your DNA: First Large-Scale DNA Study in Florida Aims to Unlock the Secret to a Healthier Life

AdventHealth Offers Free DNA Tests to 10,000 Floridians

How AdventHealth Orlando is Building a Future in Genomics

Helix Partners with AdventHealth to Offer 10,000 Genetic Screenings in Florida

AdventHealth to Launch Large Genetic Study for High Cholesterol

Ochsner Health System Teaming Up with Genetic Testing Company Color in Population Genomics

The Healthy Nevada Project: from Recruitment to Real-World Impact

Ochsner Health System to Pilot Genetic Screening Program in Partnership with Color

North Shore and Color Unlock the Power of Genomics in Routine Care

Jefferson Heath and Color Advancing Precision Health Through Clinical Genomics and Richer Data

Two Boston Health Systems Enter the Growing Direct-to-Consumer Gene Sequencing Market by Opening Preventative Genomics Clinics, But Can Patients Afford the Service

Geisinger Health and Sanford Health Ready to Offer Genetic Tests and Precision Medicine Services in Primary Care Clinics