NEW YORK – Healthcare providers who regularly rely on GeneReviews are concerned that this online database of information on hereditary conditions and their genetic roots could be at risk as part of the Trump administration's recent cuts to programs at the US Department of Health and Human Services (HHS).
Experts at the University of Washington, who maintain the resource, have allegedly been asked to provide information on the value of GeneReviews to the US National Institutes of Health (NIH) by Friday. The news of the inquiry has led genetics experts and other medical professionals and stakeholders to fear the potential loss of this widely used database, raising alarms on LinkedIn, Bluesky, and Reddit this week. They are encouraging their peers to submit to UW examples of how they use GeneReviews in patient care and as part of clinician education.
GeneReviews, which was established in 1997 with NIH funding, contains up-to-date peer-reviewed articles on how to diagnose, manage, and provide genetic counseling to individuals with heritable diseases. Experts on specific diseases who author the articles are expected to update the information regularly, and the articles contain references to academic papers and other resources. The National Center for Biotechnology Information publishes the freely available database.
The American College of Medical Genetics and Genomics (ACMG) said it is aware of the concerns about the repository and monitoring the situation closely, describing GeneReviews as a "critically important and trusted resource for the genetics and genomics community" that comprises "indispensable resources" for educational training programs.
"We are aware of the recent concerns within the genetics community regarding inquiries into the program," ACMG President Mira Irons said. "While the details and intent of this inquiry remain unclear, ACMG emphasizes the significant role GeneReviews plays in supporting patient care and clinical decision-making, especially in the diagnosis and management of rare and inherited conditions."
HHS and the NIH did not respond to a request for comment on the nature and purpose of their inquiry into GeneReviews before press time.
Posts circulating on social media did not specify who or what organization was spearheading the probe or what would be done with the information but indicated those involved with GeneReviews were asked to send information about the resource's value by the end of the week to NIH Director Jay Bhattacharya, who took the helm there April 1.
Still, the alleged probe has raised alarm bells in the wake of layoffs and other cuts across HHS agencies, as the Trump administration seeks to restructure the department. In just the past few weeks, the Trump administration has made changes to leadership at the NIH's National Human Genome Research Institute (NHGRI), leading to the departure of former Director Eric Green and putting former acting Director Vence Bonham Jr. on administrative leave. The administration has also made cuts to the US Food and Drug Administration's drug and device divisions; cancelled the Public Health Genomics program at the US Centers for Disease Control and Prevention (CDC); terminated the Advisory Committee on Heritable Disorders in Newborns and Children, which advised HHS on newborn screening programs administered by states and local health agencies; and much more.
There's been a lot of chatter and concern over whether GeneReviews is at risk across various online channels that genetic counselors communicate through, with the implication being that GeneReviews staff are being asked to justify why the resource is important, said Sara Pirzadeh-Miller, director of the cancer genetics program at University of Texas Southwestern Medical Center and president of National Society of Genetic Counselors (NSGC).
She noted she was not speaking on behalf of NSGC, but that the organization is aware of the situation and watching it "very intently" as it evolves.
"I routinely go back to GeneReviews to ensure that I am totally up to date on any indication that I might be seeing [in a patient], especially if it's something that maybe I haven't seen in a while," Pirzadeh-Miller said. "There's nothing like it in the world, and to have that at your fingertips is — it's hard to put into words how important that is."
Although it is unclear what changes, if any, the government is considering for GeneReviews, the "worst-case scenario" would be losing the resource entirely, Pirzadeh-Miller said. But cutting its funding could also result in it not being updated as frequently or as robustly as it is currently.
There's been an "unfortunate, really disappointing evolution of resource-cutting in our genomics space," she added. "The CDC just went through this, NHGRI — we're seeing the continued pummeling of genetics and genomics resources that are really being scrutinized, and some being cut at this point."
Given the ambitions of the Trump administration to promote a limited government, upon hearing that GeneReviews is under examination, Sharon Terry, CEO of Genetic Alliance, a nonprofit that works with patients and families to accelerate genomic research, fears that the administration may be laying the groundwork to try to defund it. Terry said GeneReviews is a popular resource not only for clinicians, but also for patient advocates and patients and family members to learn about their conditions.
"People really rely on it," she said, noting that for many in the genetics field, it's the "single source of truth" for many diseases. "I just know that it's ubiquitously used across our community, and it would be a tremendously difficult situation if it disappears."
GeneReviews is widely used by clinicians worldwide to get critical and timely information about genetic syndromes, many of them rare, said Ellen Matloff, president and founder of My Gene Counsel, a health technology company that provides online genetic counseling and genetic health resources to healthcare organizations.
"This resource has been curated over decades and is a showpiece positioning the US as a global leader in genomics," she said. "It is possible that such stakeholders will have to turn to paid resources, instead of this free open-source resource, for critical information in the future."
For example, genetic counselors regularly consult GeneReviews to review the latest screening guidelines, clinical and molecular diagnostic criteria, and treatment recommendations. In addition to its use within patient care, it is also a resource for genetic counselors and medical students studying for boards and other exams.
A spokesperson for the American Society of Human Genetics said it did not have a statement on the matter. The American Board of Genetic Counseling, which administers board exams for genetic counselors, did not respond to a request for comment before press time.
Stephanie Cohen, a genetic counselor in the cancer genetics risk assessment program at Ascension St. Vincent Hospital, said concern for the future of GeneReviews has been a big topic of conversation among her peers over the past few days. At a tumor board meeting at her healthcare institution on Wednesday, all of the dozen or so clinicians present were discussing it. "Every single person agreed that they use GeneReviews on a regular basis," she said.
Cohen, for example, shared that she recently saw a patient with an unusual tumor that she has rarely encountered. She was able to get the information she needed on the gene involved and tumor type from GeneReviews in 15 minutes, but she estimated that without it, she could have spent hours on this task, searching for and compiling the latest studies, patient resources, guidelines, and information on labs.
"It's almost impossible for us to stay up to date on every aspect of genetics because things change so quickly," she said. "It's really important that the right person is looking at this information and curating it," she added, underscoring the importance of the information in GeneReviews being written and edited by subject-matter experts.
If genetic counselors have to spend a lot of time digging to find the necessary information, without the help of a resource like GeneReviews, that could impact the number of patients they see in a day. That's a problem, since there's already a shortage of genetic counselors, Cohen said. "It has saved me a lot of time because I can go to one location and get information about a genetic condition or about a gene," Cohen said. "It's just a one-stop shop for much of what I need, at least to get started."
GeneReviews is a resource that many in the genetics field use on a weekly, if not daily, basis, noted Erin MacLeod, president of Genetic Metabolic Dietitians International, a professional organization. "The idea that GeneReviews wouldn't exist is very scary for a lot of practitioners," she said.
GeneReviews is publicly available, allowing access to practitioners across the country, whether they're at well-resourced healthcare institutions or at small, community practices. That isn't always the case for papers in peer-reviewed journals or other resources, where clinicians' access might be limited by the subscriptions their institutions have or their practices can afford.
Fearing GeneReviews is on the chopping block, some genetic counselors are downloading information from it, so they can still access the current version offline. Others are hoping that an altruistic organization, such as a nonprofit or an academic institution, could step up and continue to house and fund the resource, if needed.
The Human Gene Mutation Database, which contains information on germline genetic mutations linked to heritable diseases, for instance, is curated and updated by gene variation scientists at Cardiff University in the UK and operated by molecular testing company Qiagen, with a publicly accessible and a subscription-based professional version. Users of GeneReviews, however, prize its thoroughness and accuracy as a fully free resource.
Genetic Alliance is open to exploring hosting GeneReviews if it's taken offline, Terry offered. With so much inaccurate information related to health and genetics out there, particularly on the internet, it's important to have a trusted resource that compiles well-established research on these topics, she said.
"We don't have funding to do that," she noted, hopeful that the genetics community will rally to find a way to preserve the information on GeneReviews, if needed.