Healthy Nevada Project’s community-based approach reveals up to 90% of CDC Tier 1 genetic condition risks missed using clinical care guidelines
In a new study published today in the journal Nature Medicine, researchers behind the Healthy Nevada Project® suggest that community-based genetic screening has the potential to efficiently identify individuals who may be at increased risk for three common inherited genetic conditions known to cause several forms of cancer and increased risk for heart disease or stroke.
In 2018, the Healthy Nevada Project® (the largest, community-based population health study combining genetic, clinical, environmental, and social data) started notifying consenting study participants who have certain genetic variants that predispose them to the Centers for Disease Control and Prevention (CDC) Tier 1 genetic conditions. The study focused on identifying carriers of these conditions, which include Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia, because they are the most common conditions and early detection and treatment could significantly lower morbidity and mortality.
Initial results from almost 27,000 study participants showed that 90% of carriers of the CDC Tier 1 genetic conditions were not previously identified in a clinical setting. The authors conclude that population genetic screening would identify at-risk carriers not identified during routine care.
“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,” explained Joseph Grzymski, Ph.D., the principal investigator of the Healthy Nevada Project®, a research professor at the Desert Research Institute (DRI), chief scientific officer for Renown Health and lead author of the study.
“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.”
Within the group of 26,906 Healthy Nevada Project® participants that Grzymski’s research team studied, 358 (1.33%) were carriers for CDC Tier 1 conditions. However, only 25% of those individuals met clinical guidelines for genetic screening. Additionally, more than 20% of the carriers already had a diagnosis of disease-relevant to their underlying genetic condition.
“We’re at a point now where it’s possible to do clinical-grade genetic screening at population-scale,” added James Lu, M.D. Ph.D., co-founder and chief scientific officer of Helix and senior co-author of the study. “What this study demonstrates is the potential impact of doing so. By making genetic screening available more broadly, we can help the millions of Americans who are unaware that they are living at increased risk for highly actionable, genetic conditions take action.”
Most notably, the study found that of the 273 participants who were carriers of the CDC Tier 1 genetic conditions and had clinical record information, only 22 individuals showed any previous suspicion of their underlying genetic conditions.
“For the first time, we are providing information at the individual level so study participants can make lifesaving changes to reduce their risk based on their genetics,” said Anthony Slonim, M.D., Dr.PH., FACHE, president and CEO of Renown Health and co-director of the Project® study. “We’re conducting research on the community level to develop leading-edge research on health determinants for entire neighborhoods, states and eventually, the country. Returning these results allows us to understand the prevalence of genetically programmed diseases and illnesses that we have here in Nevada and ensure we are providing the best prevention and care plans. For the individual, the return of results can be lifechanging.”
According to the CDC, early detection and intervention of Tier 1 genetic conditions could have a meaningful potential for clinical actionability and a positive impact on public health.
The Healthy Nevada Project®, which launched in 2016, offers free genetic testing to every Nevadan, aged 18 and older, interested in learning more about their health and genetic profile. With more than 50,000 study participants enrolled in four years, the Healthy Nevada Project® has become the fastest-enrolling genetic study in the world. For more about the Healthy Nevada Project® please visit healthynv.org
The Latest Updates from Bing News & Google News
Go deeper with Bing News on:
Genetic screening
- The Genetic Risk: V142I Variant and Heart Failure Among Black Americans
The Impact of the V142I Variant on Cardiac Amyloidosis “We believe these data will inform clinicians and patients regarding risk when these genetic findings are known, either th ...
- Genetic Testing Market to Generate USD 40.9 Billion by 2032, 10.2% (CAGR ) Annual Growth Predicted During 2023-2032
Genetic Testing Market OverviewAccording to the report, the global genetic testing market was valued for $15.5 Billion in 2022 and is estimated to reach $40.9 Billion by 2032, exhibiting a CAGR of 10.
- Researchers show genetic variant common among Black Americans contributes to large cardiovascular disease burden
Researchers at Brigham and Women's Hospital and Duke University showed that a genetic variant, present in 3-4% of self-identified Black individuals in the U.S., increases the risk for both heart failu ...
- After 5 miscarriages, couple welcome son after genetic screening procedure
The couple finally welcomed their first son, Evan, who is now two years old, after they tried pre-implantation genetic screening (PGS). PGS is a procedure to boost the in-vitro fertilisation (IVF) ...
- Southern 7 Health Department expands genetic cancer testing
After Southern 7 Health Department started a genetic testing and counseling program to help patients in Southern Illinois identify their risk for developing eight potential cancers last spring, the pr ...
Go deeper with Google Headlines on:
Genetic screening
[google_news title=”” keyword=”genetic screening” num_posts=”5″ blurb_length=”0″ show_thumb=”left”]
Go deeper with Bing News on:
Community-based genetic screening
- Labroots Announces the 12th Annual Precision Medicine: Genomics, Genetics & Molecular Diagnostics Virtual Event Series 2024
Labroots, the leading scientific social networking website and producer of educational virtual events and webinars, proudly announces the upcoming 12th Annual Precision Medicine Virtual Event Series.
- Researchers discover new genetic mutation for congenital thyroid condition
One in every 2,000 newborns has a lack or diminished thyroid hormone at birth, which can cause irreparable mental and development damage if left untreated. Thyroid stimulating hormone (TSH), produced ...
- Southern 7 Health Department expands genetic cancer testing
ULLIN — After Southern 7 Health Department started a genetic testing and counseling program to help patients ... the program is expanding to six other health departments. Shawnna Rhine, S7HD community ...
- Is Acid Reflux Genetic?
Research shows that genetics play a role in developing this condition. Acid reflux is a fairly common digestive problem. It occurs when stomach content moves back into the esophagus, leading to a ...
- Genetics studies have a racial diversity problem
Community advisory board member Lee Moultrie said he recently asked project leaders to reach out to African American media outlets throughout the Palmetto State to explain how the genetics research ...
Go deeper with Google Headlines on:
Community-based genetic screening
[google_news title=”” keyword=”community-based genetic screening” num_posts=”5″ blurb_length=”0″ show_thumb=”left”]