News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
Sign In

Next-Generation Sequencing Allows Mayo Clinic Researchers to Produce Large Dataset of Patients’ Exomes

Nearly 100,000 patients submitted saliva samples to a genetic testing laboratory, providing insights into their disease risk

Researchers at Mayo Clinic have employed next-generation sequencing technology to produce a massive collection of exome data from more than 100,000 patients, offering a detailed look at genetic variants that predispose people to certain diseases. The study, known as Tapestry, was administered by doctors and scientists from the clinic’s Center for Individualized Medicine and produced the “largest-ever collection of exome data, which include genes that code for proteins—key to understanding health and disease,” according to a Mayo Clinic news release.

For our clinical laboratory professionals, this shows the keen interest that a substantial portion of the population has in using their personal genetic data to help physicians identify their risk for many diseases and types of cancer. This support by healthcare consumers is a sign that labs should be devoting attention and resources to providing these types of gene sequencing services.

As Mayo explained in the news release, the exome includes nearly 20,000 genes that code for proteins. The researchers used the dataset to analyze genes associated with higher risk of heart disease and stroke along with several types of cancer. They noted that the data, which is now available to other researchers, will likely provide insights into other diseases as well, the news release notes.

The Mayo Clinic scientists published their findings in Mayo Clinic Proceedings titled, “Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education.”

“What we’ve accomplished with the Tapestry study is a blueprint for future endeavors in medical science,” said gastroenterologist and lead researcher Konstantinos Lazaridis, MD (above), in the news story. “It demonstrates that through innovation, determination and collaboration, we can deeply advance our understanding of DNA function and eventually other bio-molecules like RNA, proteins and metabolites, turning them into novel diagnostic tools to improve health, prevent illness, and even treat disease.” Some of these newly identified genetic markers may be incorporated into new clinical laboratory assays. (Photo copyright: Mayo Clinic.)

How Mayo Conducted the Tapestry Study

One notable aspect of the study was its methodology. The study launched in July 2020 during the COVID-19 pandemic. Since many patients were quarantined, researchers conducted the study remotely, without the need for the patients to visit a Mayo facility. It ran for five years through May 31, 2024. The news release notes that it’s the largest decentralized clinical trial ever conducted by the Mayo Clinic.

The researchers identified 1.3 million patients from the main Mayo Clinic campuses in Minnesota, Arizona, and Florida who met the following eligibility criteria:

  • Participants had to be 18 or older,
  • they had to have internet and email access, and
  • be sufficiently proficient in speaking and reading English.

Patients with certain medical conditions, such as dementia and hematologic cancers, were excluded.

More than 114,000 patients consented to participate, but some later withdrew, resulting in a final sample of 98,222 individuals. Approximately two-thirds were women. Mean age was 57 (61.9 for men and 54.3 for women).

“It was a tremendous effort,” said Mayo Clinic gastroenterologist and lead researcher Konstantinos Lazaridis, MD, in the news release. “The engagement of such a number of participants in a relatively short time and during a pandemic showcased the trust and the dedication not only of our team but also of our patients.”

He added that the researchers “learned valuable lessons about some patients’ decisions not to participate in Tapestry, which will be the focus of future publications.”

Three Specific Genes

Enrolled patients were invited to visit a website, where they could view a video and submit an eligibility form. Once approved, they completed a digital consent agreement and received a saliva collection kit. Participants were also invited to provide information about their family history.

Helix, a clinical laboratory company headquartered in San Mateo, Calif., performed the exome sequencing.

Though Helix performed whole exome sequencing, the researchers were most interested in three specific sets of genes:

Patients received clinical results directly from Helix along with information about their ancestry. Clinical results were also transmitted to Mayo Clinic for inclusion in patients’ electronic health records (EHRs).

Among the participants, approximately 1,800 (1.9%) had what the researchers described as “actionable pathogenic or likely pathogenic variants.” About half of these were BRCA1/2.

These patients were invited to speak with a genetic counselor and encouraged to undergo additional testing to confirm the variants.

Tapestry Genomic Registry

In addition to the impact on the participants, Mayo Clinic’s now has an enormous amount of raw sequencing data stored in the Tapestry Genomic Registry, where it will be available for future research.

The database “has become a valuable resource for Mayo’s scientific community, with 118 research requests submitted,” the researchers wrote in the news release. Mayo has distribution more than a million exome datasets to other genetic researchers.

“What we’ve accomplished with the Tapestry study is a blueprint for future endeavors in medical science,” Lazaridis noted. “It demonstrates that through innovation, determination, and collaboration, we can deeply advance our understanding of DNA function and eventually other bio-molecules like RNA, proteins and metabolites, turning them into novel diagnostic tools to improve health, prevent illness, and even treat disease.”

Everything about this project is consistent with precision medicine, and the number of individuals discovered to have risk of cancers is relevant. Clinical laboratory professionals understand these ratios and the importance of early detection and early intervention. 

—Stephen Beale

Related Information:

Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education

Mayo Clinic’s Largest-Ever Exome Study Offers Blueprint for Biomedical Breakthroughs

Mayo Clinic to Study 10,000 Patients for Drug-Gene Safety

Australia Launches Pilot Preventative Cancer Screening Program That Offers Low-cost DNA Genetic Testing to Healthy Adults Between Ages 18 to 40

Studies into use of population-level genomic cancer screening show promising results while indicating that such testing to find evidence of increased cancer risk among non-symptomatic people may be beneficial

In another example of a government health system initiating a program designed to proactively identify people at risk for a serious disease to allow early clinical laboratory diagnosis and monitoring for the disease, cancer researchers at Monash University in Australia have receive a $2.97 million grant from the Medical Research Future Fund (MRFF) to study ways to “identifying people who are living with a heightened cancer risk who would ordinarily be informed only after a potentially incurable cancer is diagnosed.”

The MRFF is a $20 billion fund controlled by the Australian Government’s Department of Health.

According to a Monash news release, the researchers, led by Associate Professor Paul Lacaze, PhD, Head of the Public Health Genomics Program at Monash University, plan to use the award to develop a “new low-cost DNA screening test which will be offered to 10,000 young Australians. The new approach, once scaled-up, has the potential to drastically improve access to preventive genetic testing in Australia, and could help make Australia the world’s first nation to offer preventive DNA screening through a public healthcare system.”

Called DNACancerScreen, the clinical genetic test will be offered to anyone between the ages of 18 and 40, rather than to a select group of people who have a family history of cancer or who present with symptoms. The Monash scientists hope to advance knowledge about the relationship of specific genes and how they cause or contribute to cancer. Such information, they believe, could lead to the development of new precision medicine diagnostic tests and anti-cancer drug therapies.

Gap in Current Cancer Screening Practices

The DNACancerScreen test will look for genes related to two specific cancer categories:

These are considered Tier 1 genetic risks by the federal Centers for Disease Control and Prevention (CDC).

Hereditary Breast and Ovarian Cancer Syndrome is associated with an increased risk of developing breast, ovarian, prostate, and pancreatic cancers, as well as melanoma. Lynch Syndrome is associated with colorectal, endometrial, ovarian, and other cancers.

Currently, screening practices may miss as many as 50-90% of individuals who carry genetic mutations associated with hereditary breast and ovarian cancer, and as many as 95% of those at risk due to Lynch Syndrome, according to the Monash news release.

But currently, only those with a family history of these cancers, or those who present with symptoms, are screened. By targeting younger individuals for screening, Lacaze and his team hope to give those at risk a better chance at early detection.

“This will empower young Australians to take proactive steps to mitigate risk, for earlier detection, surveillance from a younger age, and prevention of cancer altogether,” Lacaze said in the news release.

Paul Lacaze

Along with the possibility of saving lives, Associate Professor Paul Lacaze, PhD (above), Head of the Public Health Genomics Program at Monash University, expects that the screening program will have an economic impact as well. “This type of preventive DNA testing will not only save lives, but also save the Australian public healthcare system money by preventing thousands of cancers,” he said. There’s evidence to back up his statement. In 2019 he led a team that published a study, titled, “Population Genomic Screening of All Young Adults in a Healthcare System: A Cost Effectiveness Analysis.” That study concluded, “Preventive genomic screening in early adulthood would be highly cost-effective in a single-payer healthcare system, but ethical issues must be considered.” (Photo copyright: Monash University.)

Similar Genetic Studies Show Encouraging Results

Although the DNACancerScreen study in Australia is important, it is not the first to consider the impact of population-level screening for Tier 1 genetic mutations. The Healthy Nevada Project (HVN), a project that combined genetic, clinical, environmental, and social data, tested participants for those Tier 1 conditions. The project was launched in 2016 and currently has more than 50,000 participants, a Desert Research Institute (DRI) press release noted. 

In 2018, HVN began informing participants who had increased risk for hereditary breast and ovarian cancer, Lynch Syndrome, and a third condition called Familial Hypercholesterolemia. There were 27,000 participants, and 90% of those who had genetic mutations associated with the three Tier 1 conditions had not been previously identified.

“Our first goal was to deliver actionable health data back to the participants of the study and understand whether or not broad population screening of CDC Tier 1 genomic conditions was a practical tool to identify at-risk individuals,” said Joseph Grzymski, PhD, lead author of the HVN study in the DRI press release.

Grzymski is Principal Investigator of the Healthy Nevada Project, Director of the Renown Institute for Health Innovation, Chief Scientific Officer for Renown Health, and a Research Professor in Computational Biology and Genetics at the Desert Research Institute.

“Now, two years into doing that it is clear that the clinical guidelines for detecting risk in individuals are too narrow and miss too many at risk individuals,” he added.

A total of 358, or 1.33% of the 26,906 participants in the Healthy Nevada Project were carriers for the Tier 1 conditions, but only 25% of them met the current guidelines for screening, and only 22 had any previous suspicion in their medical records of their genetic conditions.

Another project, the MyCode Community Health Initiative conducted at Geisinger Health System, found that 87% of participants with a Tier 1 gene variant did not have a prior diagnosis of a related condition. When the participants were notified of their increased risk, 70% chose to have a related, suggested procedure.

“This evidence suggests that genomic screening programs are an effective way to identify individuals who could benefit from early intervention and risk management—but [who] have not yet been diagnosed—and encourage these individuals to take measures to reduce their risk,” a Geisinger Health press release noted.

Realizing the Promise of Precision Medicine

Studies like these are an important step in realizing the potential of precision medicine in practical terms. The Tier 1 genetic conditions are just a few of the more than 22,000 recognized human genes of which scientists have a clear understanding. Focusing only on those few genetic conditions enables clinicians to better help patients decide how to manage their risk.

“Genomic screening can identify at-risk individuals more comprehensively than previous methods and start people on the path to managing that risk. The next step is figuring out the impact genomic screening has on improving population health,” said Adam Buchanan, MPH, MS, Director of Geisinger’s Genomic Medicine Institute.

These are positive developments for clinical laboratories and anatomic pathology group practices. The three examples cited above show that a proactive screening program using genetic tests can identify individuals at higher risk for certain cancers. Funding such programs will be the challenge.

At the current cost of genetic testing, screening 100 people to identify a few individuals at high risk for cancer would probably not be considered the highest and best use of the limited funds available to the healthcare system.

—Dava Stewart

Related Information

Landmark New DNA Screening Study to Offer Free Genetic Testing to Young Adults for Cancer Risk

Population Genomic Screening of All Young Adults in a Healthcare System: A Cost-Effectiveness Analysis

Population Genetic Screening Shown to Efficiently Identify Increased Risk for Inherited Disease

Population Genetic Screening Efficiently Identifies Carriers of Autosomal Dominant Diseases

Results of Observational Study Published in Genetics in Medicine

Geisinger Researchers Find Genomic Screening Effective in Detecting Risk for Previously Undiagnosed Conditions

AdventHealth Gives 10,000 Floridians Free Genetic Tests, Sees Genomics as the Future of Precision Medicine

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

Polygenic Scores Show Potential to Predict Humans’ Susceptibility to a Range of Chronic Diseases; New Clinical Laboratory Genetic Tests Could Result from Latest Research

Access to vast banks of genomic data is powering a new wave of assessments and predictions that could offer a glimpse at how genetic variation might impact everything from Alzheimer’s Disease risk to IQ scores

Anatomic pathology groups and clinical laboratories have become accustomed to performing genetic tests for diagnosing specific chronic diseases in humans. Thanks to significantly lower costs over just a few years ago, whole-genome sequencing and genetic DNA testing are on the path to becoming almost commonplace in America. BRCA 1 and BRCA 2 breast cancer gene screenings are examples of specific genetic testing for specific diseases.

However, a much broader type of testing—called polygenic scoring—has been used to identify certain hereditary traits in animals and plants for years. Also known as a genetic-risk score or a genome-wide score, polygenic scoring is based on thousands of genes, rather than just one.

Now, researchers in Cambridge, Mass., are looking into whether it can be used in humans to predict a person’s predisposition to a range of chronic diseases. This is yet another example of how relatively inexpensive genetic tests are producing data that can be used to identify and predict how individuals get different diseases.

Assessing Heart Disease Risk through Genome-Wide Analysis

Sekar Kathiresan, MD, Co-Director of the Medical and Population Genetics program at Broad Institute of MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital (Mass General); and Amit Khera, MD, Cardiology Fellow at Mass General, told MIT Technology Review “the new scores can now identify as much risk for disease as the rare genetic flaws that have preoccupied physicians until now.”

“Where I see this going is that, at a young age, you’ll basically get a report card,” Khera noted. “And it will say for these 10 diseases, here’s your score. You are in the 90th percentile for heart disease, 50th for breast cancer, and the lowest 10% for diabetes.”

However, as the MIT Technology Review article points out, predictive genetic testing, such as that under development by Khera and Kathiresan, can be performed at any age.

“If you line up a bunch of 18-year-olds, none of them have high cholesterol, none of them have diabetes. It’s a zero in all the columns, and you can’t stratify them by who is most at risk,” Khera noted. “But with a $100 test we can get stratification [at the age of 18] at least as good as when someone is 50, and for a lot of diseases.”

Sekar Kathiresan, MD (left), Co-Director of the Medical and Population Genetics program at Broad Institute at MIT/Harvard and Director of the Center for Genomics Medicine at Massachusetts General Hospital; and Amit Khera, MD (right), Cardiology Fellow at Mass General, are researching ways polygenic scores can be used to predict the chance a patient will be prone to develop specific chronic diseases. Anatomic pathology biomarkers and new clinical laboratory performed genetic tests will likely follow if their research is successful. (Photo copyrights: Twitter.)

Polygenic Scores Show Promise for Cancer Risk Assessment

Khera and Kathiresan are not alone in exploring the potential of polygenic scores. Researchers at the University of Michigan’s School of Public Health looked at the association between polygenic scores and more than 28,000 genotyped patients in predicting squamous cell carcinoma.

“Looking at the data, it was surprising to me how logical the secondary diagnosis associations with the risk score were,” Bhramar Mukherjee, PhD, John D. Kalbfleisch Collegiate Professor of Biostatistics, and Professor of Epidemiology at U-M’s School of Public Health, stated in a press release following the publication of the U-M study, “Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.”

“It was also striking how results from population-based studies were reproduced using data from electronic health records, a database not ideally designed for specific research questions and [which] is certainly not a population-based sample,” she continued.

Additionally, researchers at the University of California San Diego School of Medicine (UCSD) recently published findings in Molecular Psychiatry on their use of polygenic scores to assess the risk of mild cognitive impairment and Alzheimer’s disease.

The UCSD study highlights one of the unique benefits of polygenic scores. A person’s DNA is established in utero. However, predicting predisposition to specific chronic diseases prior to the onset of symptoms has been a major challenge to developing diagnostics and treatments. Should polygenic risk scores prove accurate, they could provide physicians with a list of their patients’ health risks well in advance, providing greater opportunity for early intervention.

Future Applications of Polygenic Risk Scores

In the January issue of the British Medical Journal (BMJ), researchers from UCSD outlined their development of a polygenic assessment tool to predict the age-of-onset of aggressive prostate cancer. As Dark Daily recently reported, for the first time in the UK, prostate cancer has surpassed breast cancer in numbers of deaths annually and nearly 40% of prostate cancer diagnoses occur in stages three and four. (See, “UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service,” May 23, 2018.)

An alternative to PSA-based testing, and the ability to differentiate aggressive and non-aggressive prostate cancer types, could improve outcomes and provide healthcare systems with better treatment options to reverse these trends.

While the value of polygenic scores should increase as algorithms and results are honed and verified, they also will most likely add to concerns raised about the impact genetic test results are having on patients, physicians, and genetic counselors.

And, as the genetic testing technology of personalized medicine matures, clinical laboratories will increasingly be required to protect and distribute much of the protected health information (PHI) they generate.

Nevertheless, when the data produced is analyzed and combined with other information—such as anatomic pathology testing results, personal/family health histories, and population health data—polygenic scores could isolate new biomarkers for research and offer big-picture insights into the causes of and potential treatments for a broad spectrum of chronic diseases.

—Jon Stone

Related Information:

Forecasts of Genetic Fate Just Got a Lot More Accurate

Polygenic Scores to Classify Cancer Risk

Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-Wide Study: Results from the Michigan Genomics Initiative

Polygenic Risk Score May Identify Alzheimer’s Risk in Younger Populations

Use of an Alzheimer’s Disease Polygenic Risk Score to Identify Mild Cognitive Impairment in Adults in Their 50s

New Polygenic Hazard Score Predicts When Men Develop Prostate Cancer

Polygenic Hazard Score to Guide Screening for Aggressive Prostate Cancer: Development and Validation in Large Scale Cohorts

UK Study Finds Late Diagnosis of Prostate Cancer a Worrisome Trend for UK’s National Health Service

;