Genetic scientists show how rapid WGS is helping doctors determine best treatments for patients with life-threatening conditions
Clinical laboratory scientists will recall that last year, Dark Daily covered how researchers at Stanford University School of Medicine had developed a method for performing rapid whole genomic sequencing (WGS) in as little as five hours. We predicted that their new ultra-rapid genome sequencing approach could lead to significantly faster diagnostics and improved clinical laboratory treatments for cancer and other diseases. And it has.
The research scientist responsible for that breakthrough is cardiologist and Associate Dean of Stanford University School of Medicine, Euan Ashley, MD, PhD. Ashley is also a professor of genomics and precision health, cardiovascular medicine, genetics, and biomedical data science and pathology.
Ashley’s success demonstrates that the drive to reduce the diagnostic time to answer is a market dynamic encouraging research companies to continue finding ways to make WGS faster to accomplish, cheaper to perform, and the DNA sequences generated more accurate.
It is precisely these developments that will provide clinical laboratories and anatomic pathology groups with new means for improving diagnosis and the identification of the most appropriate therapies for individual patients—a core element of precision medicine.
Ashley’s team is now looking at how faster genetic sequencing results could help physicians make life-and-death treatment decisions, STAT reported.
“There’s just never been a better time to be doing genomics,” cardiologist Euan Ashley, MD, PhD, Associate Dean of the Stanford University School of Medicine, told STAT. “Now there are lots of choices. If you’re a genome center and you need to do half a million genomes, you’re going to be extremely price-sensitive. If you’re a clinical lab, where you get a few exomes and a few genomes every day, and what really matters to you is the highest possible accuracy for diagnosis, then you’re definitely going to make a different choice,” he added. (Photo copyright: euanangusashley.com.)
Getting Crucial Genetic Information Faster
Ashley believes that if doctors who work with rare and deadly diseases get crucial genetic information faster, they can more precisely determine which surgical procedures are best for their patients during life-or-death situations.
Already, his work is proving highly successful. In a letter his team published in the New England Journal of Medicine (NEJM), the researchers reported 12 cases of sequencing seriously ill patients, five of whom were diagnosed in seven hours and 18 minutes. Every single case resulted in tangible changes in treatments given to the patients.
“We continue to be interested in sequencing genomes faster and more accurately, for a broader range of clinical applications. We’re recruiting from intensive care units similar kinds of patients to the ones we did before, but with every aspect of the pipeline upgraded, which helps both from a speed but also from an accuracy perspective,” he told STAT.
Ashley and his team continue to delve into the patient care aspects, striving to continue to make a big impact. In addition, the group is being sought out by cancer doctors who need faster diagnoses.
“We also have a lot of interest from cancer doctors saying it’s really important to make a cancer diagnosis quickly. And of course, there is no person who’s ever had the specter of cancer hanging over them for a moment that didn’t want some kind of an answer faster. If you can have it in the next minute, you would take it rather than waiting several weeks,” he noted.
As a result, the group has initiated pilot studies “to look at returning results faster in the same way that we were speeding up the intensive care unit with whole genome sequencing,” Ashley told STAT.
Though the work is in the early stages, the team has a few scenarios where access to genetic data changes medical decision making. For instance, when genetic test results showing a positive BRCA variant alter a doctor’s surgical plan.
“We don’t wait for a cardiac enzyme [test] if somebody’s having a heart attack. That comes back within 10 minutes to a few hours from the lab. I don’t see why you should have to wait for a test to tell you if you’re positive for BRCA variant,” he told STAT.
“Another very obvious place is acute leukemia. And there’s a number of actionable conditions where if they can be detected rapidly, then treatment can be started faster,” he added.
Improving Genetic Sequencing Accuracy while Lowering Costs
STAT asked Ashley about a claim that his team could cut their Guinness World Record sequencing time in half.
“It’s easy to throw that number around, harder to deliver on it. But I think we’re definitely on track to knock hours, not minutes, off that record,” he said.
Additionally, the team continues to work on decreasing cost per genome. In just the time since the record was set, there has already been great strides in this area. The market is filled with new companies and the competition has lowered costs.
“It has definitely come down,” Ashely noted. “In fact, by the time we ended up publishing the [NEJM] paper—as opposed to when we first did this calculation—the cost was already lower. And that was actually before the entry of these new companies to the market, which added downward pressure on costs of sequencing,” he added.
Getting Payers to Reimburse for Genetic Sequencing
Even though costs for WGS is dropping, getting health plans to reimburse for genetic testing remains difficult.
“The challenge now is persuading payers to the very obvious fact that this technology makes patients’ lives better and saves them money,” Ashley told STAT. “And that’s the amazing part. There are so many cost-effectiveness studies now for this technology and yet we are still paying people to sit on the phone all day long and debate with insurance companies.
“And in a world where we pay a very large amount of money for therapeutics, these diagnostics can be cost-saving and lifesaving. At some level, it’s hard to understand why it hasn’t been deployed much more readily,” he concluded.
Clinical laboratory leaders, pathologists, and research scientists should continue to monitor the development of rapid genetic sequencing for diagnostic purposes.
In partnership with the CDC, the collected samples will be sent to approved clinical laboratories for testing as a way to monitor for traces of the SARS-CoV-2 virus
Microbiologists and virologists engaged in tracing sources of viral infections will be interested to learn that the San Francisco International Airport (SFO), in partnership with the Centers for Disease Control and Prevention (CDC), has launched a clinical laboratory testing program where wastewater from airplanes will be screened to search for traces of emerging SARS-CoV-2 coronavirus variants, the virus responsible for COVID-19 infections.
SFO announced in a press release that it is “The first airport in the United States to launch a CDC program to continuously monitor airplane wastewater samples from the onsite [airline waste] triturator for variants of SARS-CoV-2,” adding, “Concentric by Ginkgo, the biosecurity and public health unit of Boston-based synthetic biology company Ginkgo Bioworks, has installed an automatic sampling device that regularly collects combined wastewater flows from international arriving flights at SFO. These samples are then sent to an approved clinical laboratory for testing.”
This is another example of how the COVID-19 pandemic triggered advances in technologies that detect infectious diseases earlier using various samples—and access to different sources of samples—that have been historically used in the field of public health.
“This program is critical for early detection and filling in many blind spots in global surveillance,” Cindy Friedman, MD, Chief of the Travelers’ Health Branch at the CDC, told Time. Clinical laboratories approved for the SFO/CDC screening program will receive the samples for testing. (Photo copyright: NAFSA.)
CDC Program That Monitors International Travelers for Disease
When SFO wastewater samples test positive for the SARS-CoV-2 virus, scientists will perform genome sequencing on the samples to identify which variant of the pathogen is present. This process takes five to seven days. The results are then reported to the CDC.
“As we know from the COVID-19 pandemic, pathogens can spread quickly across the globe, impacting travel and trade,” said Cindy Friedman, MD, Chief of the Travelers’ Health Branch of the CDC’s Division of Global Migration and Quarantine in an SFO press release. “Testing of airplane wastewater can provide early detection of new COVID-19 variants and other pathogens that can cause outbreaks and pandemics. CDC appreciates the collaboration with SFO to further enhance these efforts.”
Concentric by Ginkgo has installed an automatic device that will collect wastewater samples from various international flights upon arrival at SFO. Those samples will then be sent to a diagnostic laboratory where they will be examined for traces of known and unknown viruses, including new variants of SARS-CoV-2.
“It’s a little gross when you start thinking about it,” epidemiologist Katelyn Jetelina, PhD, a scientific consultant for the CDC, told CNN. “But these are really long flights, and we would expect the majority of people would go to the bathroom.”
Other Airports Conducting CDC Screening
The CDC’s Traveler-based Genomic Surveillance (TGS) program was introduced in 2021 to monitor international travelers entering the US for variants of the SARS-CoV-2 coronavirus. Volunteers participate by providing nasal swabs that get batched into pools at the airport. The pooled samples are then sent to Ginkgo’s lab network where they undergo polymerase chain reaction (PCR) testing. All positive samples then receive genomic sequencing.
According to the CDC website, 110,000 volunteers participated in TGS nasal swab testing between November 2021 and February of this year. During that same period, 2,700 positive pools were sequenced and the samples shared with the CDC for viral characterization.
There are currently seven airports in the US participating in the voluntary TGS initiative. In addition to SFO, the other airports in the CDC program are:
John F. Kennedy International Airport
Newark Liberty International Airport
Hartsfield-Jackson Atlanta International Airport
Los Angeles International Airport
Seattle-Tacoma International Airport
Washington Dulles International Airport
However, at this time, SFO is the only airport where wastewater from aircrafts is being tested for coronavirus variants.
Wastewater Best Way to Assess Infections in Community
“Biology doesn’t respect borders, and airports and other ports of entry are critical nodes for monitoring the spread of pathogens,” said Matthew McKnight, General Manager, Biosecurity, at Ginkgo Bioworks, in the SFO press release. “We are proud to partner with SFO on developing cutting-edge biosecurity technology to support public health.”
Because traces of the virus that causes COVID-19 can be detected in human fecal matter, even if symptoms are not present, wastewater sampling will continue to be an important tool in the fight against the coronavirus.
“Wastewater surveillance is really the best way to assess infections in the community because people just aren’t testing as much due to the relaxing of testing requirements and a rise in testing fatigue, among other factors,” Ashish Jha, MD, a general internist physician and White House Coronavirus Response Coordinator, told CNN.
“So, when I look at data every day on trying to assess where we are with infections, I look at wastewater data,” he added.
And so, since clinical laboratories will continue to be relied upon for sample testing and population health screenings, we will continue to monitor and report on advances in wastewater testing for SARS-CoV-2, as well as other infectious agents that might be added to these sampling programs.
Microbiology team has tracked 37 unique strains of the coronavirus since they began researching lineages two years ago
Microbiologists and clinical laboratory scientists will be interested to learn about the discovery of a new strain of SARS-CoV-2, the coronavirus that caused the COVID-19 pandemic, in wastewater sampled in Ohio.
According to an article published in Nature Reviews Genetics, a CVG is “a genetic variation that normally has little or no effect on phenotype but that—under atypical conditions that were rare in the history of a population—generates heritable phenotypic variation.”
Johnson tracked the lineage of the cryptic strain to Ohio, where it appears to have originated from one individual who travels regularly between the cities of Columbus and Washington Court House. He believes this person may have a form of long COVID and is unaware that he or she is infected with the coronavirus.
“This person was shedding thousands of times more material than a normal person ever would,” Johnson told The Columbus Dispatch. “I think this person isn’t well. … I’m guessing they have GI issues.”
“If someone has this infection, the chances are nil that they’re going to figure out what it is,” Marc Johnson, PhD, Professor of Molecular Microbiology and Immunology at the University of Missouri School of Medicine, told Insider. Microbiologists and clinical laboratory scientists in the Columbus, Ohio, area may be able to help locate this person. (Photo Copyright: University of Missouri.)
Other Cryptic COVID-19 Lineages
This isn’t the only “Cryptic COVID” case identified by Johnson and his team. In Wisconsin, another unique strain was discovered and narrowed down to a single facility and about 30 individuals. Two thirds of the employees were tested but, unfortunately, all tests came back negative. The cryptic strain seemed to have disappeared.
“We don’t know why,” Johnson told The Hill. “Either [the infected person] left the job, or got better, or is in remission—we don’t know. But we’re still monitoring it. And we’ve actually now gotten started collecting stool samples from the company.”
“We systematically sampled [sewer] maintenance holes to trace the Wisconsin lineage’s origin. We sequenced spike RBD [receptor-binding domain] domains, and where possible, whole viral genomes, to characterize the evolution of this lineage over the 13 consecutive months that it was detectable.
“The high number of unusual mutations found in these wastewater-specific cryptic sequences raises the possibility that they originate from individual prolonged shedders or even non-human sources. The Wisconsin lineage’s persistence in wastewater, single-facility origin, and heavily mutated Omicron-like genotype support the hypothesis that cryptic wastewater lineages arise from persistently infected humans.”
Johnson and his team have tracked 37 unique strains of the COVID-19 virus, including one in New York City, The New York Times reported.
In a statement to The Columbus Dispatch regarding the Columbus strain, the federal Centers for Disease Control and Prevention (CDC) noted that, “The virus lineage in question is not currently spreading or a public health threat.
“Unusual or ‘cryptic’ sequences identified in wastewater may represent viruses that can replicate in particular individuals, but not in the general population,” the CDC noted. “This can be because of a compromised immune system. CDC and other institutions conduct studies in immunocompromised individuals to understand persistent infection and virus evolution.”
In identifying these lineages, and the individuals who shed them, scientists can learn more about how COVID-19 mutates and spreads.
Mitigating Consequences of COVID-19 Variants
Although the CDC says that particular strain is not a threat to the public it could pose a long-term health risk for the individual suffering. And this individual may hold clues for the future of how the COVID-19 virus mutates and grows. Therefore, locating these people is a priority.
“The coronavirus will continue to spread and evolve, which makes it imperative for public health that we detect new variants early enough to mitigate consequences,” Rob Knight, PhD, Founding Director of the Center for Microbiome Innovation and Professor of Pediatrics, Computer Science and Engineering at the University of California San Diego (UCSD).
“Before wastewater sequencing, the only way to do this was through clinical testing, which is not feasible at large scale, especially in areas with limited resources, public participation, or the capacity to do sufficient testing and sequencing,” said Knight in a UCSD press release. “We’ve shown that wastewater sequencing can successfully track regional infection dynamics with fewer limitations and biases than clinical testing to the benefit of almost any community.”
Although tracing the individuals shedding cryptic COVID-19 lineages may not have an immediate effect on public health, it could lead to future discoveries about the SARS-CoV-2 coronavirus that can help shape public health goals in fighting future pandemics.
At the very least, one individual in Columbus may learn how to treat long COVID’s adverse symptoms. Microbiologists and clinical laboratory scientists involved in COVID-19 wastewater research can learn much from following these research investigations.
Both programs seek to achieve early diagnosis by detecting a range of disorders where an existing treatment can be given as early as possible
Two separate genetic sequencing projects—one in the United Kingdom and one in New York City—aim to perform whole-genome sequencing for clinical laboratory diagnostic purposes on 100,000 newborns each to identify up to 200 rare genetic disease that are treatable with early diagnosis and intervention.
Genomics England announced its Newborn Genomes Program in 2022 and plans to start signing up expectant parents for the genetic sequencing project later this year, an article in Science reported. Parents will be invited to participate in the $129 million pilot program through the UK’s National Health Service (NHS) with the goal of enrolling 100,000 newborns over the next two years.
In the US, the Guardian Study (Genomic Uniform-screening Against Rare Diseases In All Newborns) was launched last year in New York City. The program will run for four years and sequence the DNA of 100,000 newborns looking for 160 rare genetic diseases. “Parents can opt to add 100 neurodevelopmental disorders that can’t be cured, but for which speech and physical therapy could help,” Science noted.
More than 200 babies have already been enrolled in the Guardian study, and about 70% of those invited to participate have agreed to do so, according to GenomeWeb.
“I think expanding the number of diseases we look for could make a radical improvement in the way we diagnose and treat children with rare diseases,” said molecular geneticist Wendy Chung, MD, PhD, Director of the Clinical Genetics Program at New York Presbyterian Hospital/Columbia University Medical Center, in a press release. Clinical laboratories that perform newborn screenings may soon have new genomic screening tools for a larger number of rare genetic disorders. (Photo copyright: Columbia University.)
Giving Parents the Ability to Make Informed Decisions
In many countries, newborns are screened for several dozen genetic illnesses via biochemical tests using a drop of blood collected from the baby’s heel. Whole-genome sequencing could potentially detect more disorders and allow for earlier care and treatments to avoid permanent disability or death.
Parents enrolled in the US/UK genomics sequencing programs will receive results for as many as 200 genetic diseases that are known to be caused by genetic variants and which typically display symptoms before the age of five. All the illnesses are treatable with remedies ranging from a simple vitamin supplement to a bone marrow transplant.
“For the parents who may be offered whole genome sequencing for their babies as part of our pilot, they need to know which of these many conditions will be looked for, so that they can make an informed decision about whether or not to take part in the study,” said pediatrician and geneticist David Bick, MD, Principal Clinician for the Newborn Genomes Program, in a Genomics England press release.
Parents will not receive data regarding gene variants with unknown risks or variants that only cause disease in adulthood.
Detecting a Range of Genetic Disorders in Newborns
The UK’s Newborn Genomes Program expects to identify genetic disease in at least 500 newborns. Researchers involved in the project estimate that utilizing genetic sequencing in newborns could detect those diseases in up to 3,000 babies if used across the country.
“The primary goal of the program is to detect a range of disorders where we already have an intervention that could be given at the earliest possible point in life to reduce disability or potentially to avoid harm,” said Sir Mark Caulfield, MD, Director of the William Harvey Research Institute at Queen Mary University of London and Chief Scientist for Genomics England, in a Queen Mary University press release.
“It turns out that approximately one in 190 births (circa 10 babies born every day in the UK) has one of these problems, and if the intervention is employed, this could be life changing. The majority of these interventions are dietary shifts or vitamin supplements, and only 8% are expensive treatments, for example, gene therapies or transplantation,” Caulfield noted. “The children may not be cured, but the interventions may reduce disability or even allow a normal life, so getting these life-changing opportunities to children at the earliest point is so important.”
The US initiative is using genomic sequencing to screen for 250 medical conditions that are not currently detectable in newborn screenings in New York. Like the UK program, these disorders are treatable and symptomatic before the age of five. The goal is to diagnose these illnesses earlier to allow for early treatment and better health outcomes.
“I think expanding the number of diseases we look for could make a radical improvement in the way we diagnose and treat children with rare diseases”, said Chung in a Columbia University press release. “Families and pediatricians don’t need to go through those diagnostic odysseys anymore with the genomic technology we now have. We can make the diagnosis at birth.
“I think genomic screening will also make sure we leave no baby behind. It will provide equitable access to a diagnosis,” Chung added. “We want to address health disparities, which we’ve seen happen after screening for SCID (severe combined immunodeficiency disorders) was added to state newborn screening panels. When every newborn is screened, the family’s socioeconomic status is irrelevant.”
Saving Children from Lifelong Disease
The US and UK genomics sequencing programs may have considerable influence on encouraging more newborn screening all over the world. Technological advancements in recent years have dramatically reduced genomic sequencing costs.
Additionally, sequences can be done faster and more accurately, and the technology is enabling complex analysis of data in ways that expands the information contained in the genome. This could lead to life-saving breakthroughs in treatment for many rare genetic disorders.
These developments may also encourage more clinical laboratories within the United States to consider offering a genome sequencing service for newborn screening. With hundreds of diseases now detectable through genetic technology, screening a newborn’s genome for mutations could provide more accurate and faster diagnosis of illnesses and potentially help more children avoid serious diseases.
Incident serves as a reminder that all clinical laboratories can be just one mistake away from reporting erroneous results to a number of doctors and patients
In May, more than 400 patients who agreed to take the Galleri multi-cancer early detection (MCED) blood test from GRAIL—a California-based biotechnology company that is owned by genetic technology developer Illumina—received letters falsely suggesting they had cancer, according to the Financial Times which broke the news.
The Times reported that a software error had caused GRAIL’s telemedicine provider PWNHealth, which is owned by Everly Health Solutions, to send an erroneous letter to 408 patients misinforming them that “they had a signal in their blood suggesting they could have cancer.”
In a statement, GRAIL said the letters were “in no way related to or caused by an incorrect Galleri laboratory test result” and that “the letters were inadvertently triggered by a PWNHealth software configuration issue, which had now been disabled,” Financial Times reported.
GRAIL, which stated that more than half of the people who received the letters hadn’t even had blood drawn for the test, also added that “no patient health information has been disclosed or breached due to this issue, and no patient harm or adverse events have been reported,” the Financial Times noted.
Nevertheless, it’s not hard to imagine the effect the letters had on those people. No clinical laboratory wants national headlines as a consequence of an error that causes incorrect test results to be reported to doctors and patients. How to prevent such occurrences is a challenge to all clinical laboratory managers.
According to GRAIL, its Galleri multicancer early detection test “can detect a signal shared by more than 50 cancer types and predict the tissue type or organ associated with the signal. At least 45 of these cancers lack recommended screening tests in the US today.” Clinical laboratories that draw the blood sample for the genetic test ship the collection kit directly to GRAIL’s laboratory for processing. (Photo copyright: GRAIL.)
What Went Wrong
PWNHealth said in a statement that the letters were sent due to “a misconfiguration of our patient engagement platform used to send templated communications to individuals,” CBS News reported.
Financial Times reported that the letters were issued from May 10-18, and on May 19 PWNHealth informed GRAIL of the problem. “We addressed the underlying problem within an hour of becoming aware of it and have implemented additional processes to ensure it does not happen again,” PWNHealth said. “In partnership with GRAIL, we started contacting impacted individuals within 36 hours.”
The software configuration fault was deactivated by PWNHealth, and GRAIL notified affected individuals via phone, email, and regular mail until all had been informed of the error, GRAIL said.
Though GRAIL reacted quickly, there has been fallout caused by the letters. Insurer confidence may have been damaged.
According to Financial Times, customers of life insurance company MassMutual and another unnamed insurer had “been affected” by the erroneous letters. As a result, MassMutual had suspended a pilot program and the unnamed insurer was “reviewing its relationship” with GRAIL.
About GRAIL and the Galleri Liquid Biopsy Test
GRAIL was founded in 2015 in San Francisco, California, with the goal of detecting early-stage cancer. They developed the Galleri liquid biopsy test which requires only one blood sample and can “detect a signal shared by over 50 types of cancer with 99.5% specificity and predict the cancer signal origin with high accuracy to help guide next steps,” according to the company’s website.
The $949 test can only be obtained by a doctor’s prescription. At this time it is not covered by insurance, Healthnews reported.
According to a GRAIL Galleri fact sheet, “All cells—cancer and healthy ones—shed DNA, which is called cell-free DNA (cfDNA), into the bloodstream. … After a blood sample is taken at a healthcare provider’s office or at a GRAIL partner laboratory, the Galleri test uses the power of next-generation sequencing and machine-learning algorithms to analyze cfDNA methylation patterns.
“The test uses these methylation patterns to determine if a cancer signal is present and, if so, predict the tissue type or organ where the cancer signal originated.
“If a cancer signal is detected, a healthcare provider will determine next steps for diagnostic evaluation, which may include personal and family health history, physical examination, and guideline directed evaluation(s) including lab work and imaging.”
Flashback to Another Notable Lab Error
This is not the first time inaccurate genetic test results have been sent out to patients.
In 2017, Dark Daily’s sister publication, The Dark Report, covered how genetic test developer Invitae Corporation had reported inaccurate genetic test results for up to 50,000 patients over a period of 11 months from September 2016 to July 2017.
In a statement, Invitae said the error occurred “because of the unique characteristics of how we we’re testing for the MSH2 Boland inversion, our quality control checks did not catch omission of the components of the assay. … As soon as the omission was recognized and relevant components returned to the assay, it once again performed properly. We have added two separate quality controls to ensure this issue will not reoccur.”
Negative Online Reviews Hurt Businesses including Clinical Laboratories
In its article, Status Labs references a 2021 PEW Research survey which found that “More than eight-in-10 US adults (86%) say they get news from a smartphone, computer, or tablet ‘often’ or ‘sometimes,’ including 60% who say they do so often. This is higher than the portion who get news from television, though 68% get news from TV at least sometimes and 40% do so often. Americans turn to radio and print publications for news far less frequently, with half saying they turn to radio at least sometimes (16% do so often) and about a third (32%) saying the same of print (10% get news from print publications often).”
Status Labs also cited studies showing the impact of negative press online. One study by Trustpilot showed that 90% of consumers said they will not frequent a business that has a bad reputation.
Another study by the University of Pennsylvania found that “negative reviews, messages, or rumors hurt product evaluations and reduce purchase likelihood and sales.”
Vigilance Is the Key
Clinical laboratory leaders are keenly aware that a lab’s reputation can make or break its business. This incident involving GRAIL and its telemedicine provider PWNHealth is a reminder that vendors providing services to medical laboratories can be a source of problems ranging from breaches of protected health information (PHI) to misstatements or misreporting of clinical laboratory test results.
Thus, it behooves lab managers to constantly monitor information leaving the lab, and to ensure all test results sent to patients and doctors are valid and accurate.
This research indicates consumers could increase their demand for clinical laboratory testing for genetic risk factors associated with addiction
Rutgers University researchers recently published a study of hundreds of college students that suggests there could be high future consumer demand for genetic testing related to addiction risk. What is significant is that the college students surveyed are members of Generation Z, people born between the mid-1990s and early 2010s.
Zoomers grew up knowing about the human genome, and they are likely aware of new genetic insights, new gene therapies, and new clinical laboratory tests that analyze genomic data to diagnose disease and/or identify the individual’s predisposition to certain genetic conditions.
Thus, consumer demand among Gen Z for clinical laboratories to provide such tests in the future could drive a new class of diagnostic testing that would generate a new revenue stream for clinical laboratories, while also enabling labs to deliver a value-added service to healthcare consumers and their physicians.
“Overall, the [study] results strongly encourage the notion that real genetic risk scores may prove helpful in preventing and treating alcohol addiction,” Danielle Dick, PhD, Director of the Rutgers Addiction Research Center and lead author of the study, told Neuroscience News. The results of the Rutgers study could lead to increased demand for clinical laboratory tests to determine addiction risk. (Photo copyright: Rutgers University.)
Methodology Used in Rutgers Study
To complete their study, the Rutgers researchers surveyed 325 college students and asked how they would react to learning about genetic test results indicating their risk for alcohol use disorder. The researchers found that despite the complexity of the genetic factors underlying addiction, respondents understood the connection between genetic risk and the likelihood of developing alcoholism. And most respondents indicated they would take precautions if they learned that they were at high risk.
The research “paves the way for studies using real genetic data and for integrating genetic information into prevention and intervention efforts,” the study’s lead author, Danielle Dick, PhD, Director of the Rutgers Addiction Research Center (RARC), Greg Brown Endowed Chair in Neuroscience, and Professor, Robert Wood Johnson Medical School/Psychiatry, told Neuroscience News.
The story notes that most genes associated with addiction have only been discovered recently. Commercial genetic testing services do not provide information about addiction risk, “so very few people have ever received genuine information about their genetic tendency toward addiction,” Neuroscience News noted.
The researchers obtained their data as part of a trial that sought to evaluate “the efficacy of educational information on understanding of polygenic risk scores for alcohol use disorder,” they wrote in the American Journal of Medical Genetics.
After recruiting the study participants, the researchers randomly assigned them to one of three groups:
A control group of 109 students that received no educational information.
A group of 105 students who were directed to a website with educational information about alcohol use disorder, “including a definition, consequences, and ways to reduce risk,” the researchers wrote.
A group of 111 students who were directed to a website with the same information about alcoholism, in addition to information about the role of genetics in addiction risk. This included information about “genetic variation, risk variants, how polygenic scores are created, and how they can be interpreted,” the researchers noted.
In all three groups, the survey asked respondents to imagine three hypothetical scenarios: that they had 1) a below-average genetic risk of developing alcoholism, 2) an average risk, and 3) an above-average risk.
For each level of risk, they answered a series of questions “that assessed psychological distress, perceived chance of developing alcohol use disorder, and intentions related to seeking additional information, talking to a healthcare provider, and drinking behavior,” the researchers wrote.
Results of the Rutgers Study of Genetic Risk for Alcohol Use Disorder
The researchers found that exposure to educational information had a minimal impact on the responses, which were generally consistent across all three groups.
With higher levels of risk for alcohol use disorder, respondents were more likely to indicate psychological distress, more likely to seek additional information, more likely to talk to a healthcare provider, and more likely to change drinking behaviors.
And “as the level of genetic risk increased, the perceived chance of developing alcohol use disorder significantly increased,” the researchers wrote.
Does Learning of Risk Alter Behavior?
Citing previous research, Dick said that addiction risk is roughly half determined by genetic factors, “but there’s no single addiction gene that’s either present or absent,” Dick told Neuroscience News. “Instead, there are thousands of interacting genes, so each person’s genetic risk falls somewhere on a continuum.”
The risk is distributed on a bell curve, she said, and most people fall in the middle. But despite this complexity, “study participants formed relatively accurate impressions of the risk for addiction associated with various genetic results.”
The researchers appeared to be most encouraged that the respondents indicated a willingness to take precautionary measures if they learned they had a high genetic risk of developing alcoholism.
“There was a hope that compelling information about elevated genetic risk would get people to change behavior, but we haven’t seen that happen for other aspects of health,” Dick said. “Initial studies suggest that receiving genetic feedback for heart disease, lung cancer, and diabetes does not get people to change their behavior. Getting people to alter their behavior is hard.”
Future Rutgers studies will investigate understanding of risk scores in other populations, Neuroscience News reported.
