Study Shows Importance of Ensuring Participant and Provider Follow-up After a Genetic Screening Result

Study Shows Importance of Ensuring Participant and Provider Follow-up After a Genetic Screening Result

Graphic representation of the DNA sequence

April 27, 2022
RENO, Nev.

Genetics
Genetics Screening
Actionable Care Plans
Above: Graphic representation of the DNA sequence. In a recent study, Healthy Nevada Project scientists looked at the impact that notifying a patient of a positive finding for a CDC Tier 1 condition had on the care that the patient received in the months and years that followed.
Credit: Gio_tto, “Graphic representation of the DNA sequence”, https://www.istockphoto.com/photo/dna-sequence-gm498188318-79526609.
Study Shows Importance of Ensuring Participant and Provider Follow-up After a Genetic Screening Result
New research from the Healthy Nevada Project® finds that a confirmed diagnosis does not always result in changes to patient care
front page of Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record

The full text of the study,  Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record, is available from Frontiers in Genetics: https://www.frontiersin.org/articles/10.3389/fgene.2022.866169/full?&utm_source=Email_to_authors_&utm_medium=Email&utm_content=T1_11.5e1_author&utm_campaign=Email_publication&field=&journalName=Frontiers_in_Genetics&id=866169.

Reno, Nev. (April 27, 2022)Presenting individuals with potentially life-altering health information doesn’t mean the individuals – or their healthcare providers – will act on it. Follow-up education and conversations about actionable care plans with patients and their doctors are key next steps, according to new research from the Healthy Nevada Project.  

The Healthy Nevada Project is a genetic screening and research project that launched in 2016 as a partnership between DRI and Renown Health. The project now has more than 50,000 participants, with genetic sequencing provided by Helix 

Between September 2018 and September 2020, the Healthy Nevada Project successfully notified 293 participants that they were genetically at risk for hereditary breast and ovarian cancer syndrome, Lynch syndrome, or familial hypercholesterolemia – three common genetic conditions known collectively as the Centers for Disease Control and Prevention (CDC) Tier 1 conditions. In a study published today in Frontiers in Genetics, Healthy Nevada Project scientists looked at the impact that notifying a patient of a positive finding for a CDC Tier 1 condition had on the care that the patient received in the months and years that followed.  

According to their results, among the 293 Healthy Nevada Project participants who were notified of their genetic risk of a CDC Tier 1 condition, 71 percent of participants with electronic health records shared their findings with healthcare providers. However, only 30 percent of the electronic health records for these patients contained documentation of the genetic diagnosis, and only 10 percent of examined patients experienced a possible change in care after receiving the results of their genetic screening.  

“The Healthy Nevada Project was implemented with a ‘hands-off’ approach where the participants receive their findings and decide with whom and when to share those findings. The findings were not automatically added to their electronic health records,” said Dr. Gai Elhanan, health data scientist at DRI and co-lead author of the study. “What we’re learning now is that to ensure that important genetic findings are integrated into the care journey it is important to make their inclusion into the electronic health records part of the study.” 

This study builds on previous Healthy Nevada Project research published in Nature Medicine demonstrating the importance of screening for CDC Tier 1 conditions, which affect about one in 75 individuals and can be mitigated or even prevented from developing into disease when detected early. This study found that as many as 90 percent of the CDC Tier 1 cases are missed by clinical providers during normal clinical care screenings and examinations. 

During the current study, the Healthy Nevada Project scientists found that 19 percent of studied participants had already developed one of the CDC Tier 1 conditions, and thus would have potentially benefited from earlier notification about their condition. The study team hopes that their findings will encourage individuals in Nevada to obtain genetic testing for these relatively common conditions. Even if individuals are older or have already suffered from diseases related to these conditions, testing could also prove beneficial to siblings, children, and grandchildren who may also be at risk and who could subsequently be screened in the event of a positive finding. 

The study team also encourages informing health care providers of the importance of incorporating genetic diagnoses into the pharmaceutical (for example, for Familial Hypercholesterolemia) and treatment advice given to patients.  

“As a result of this analysis, the clinicians at Renown Health and the Healthy Nevada Project researchers have made significant changes, including obtaining informed consent from participants to report positive findings from their genetics reports directly into their electronic medical record,” said Daniel Kiser, M.S., assistant research scientist of data science at DRI and co-lead author of the study. “This will help both participants, their clinical providers, and the whole state maximize the long-term benefits of the Healthy Nevada Project voluntary population-based genetic screening.”  

Additional information:

The full text of the study,  Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record, is available from Frontiers in Genetics: https://www.frontiersin.org/articles/10.3389/fgene.2022.866169/full?&utm_source=Email_to_authors_&utm_medium=Email&utm_content=T1_11.5e1_author&utm_campaign=Email_publication&field=&journalName=Frontiers_in_Genetics&id=866169.  

This project was funded by Renown Health, the Renown Health Foundation, and the Nevada Governor’s Office of Economic Development. Study authors included Gai Elhanan (DRI), Daniel Kiser (DRI), Iva Neveux (DRI), Shaun Dabe (Renown Health), Alexander Bolze (Helix), William Metcalf (DRI), James Lu (Helix), and Joseph Grzymski (DRI/Renown Health).  

For more information on the Healthy Nevada Project® or to request genetic screening, please visit: https://healthynv.org/ 

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About DRI

The Desert Research Institute (DRI) is a recognized world leader in basic and applied environmental research. Committed to scientific excellence and integrity, DRI faculty, students who work alongside them, and staff have developed scientific knowledge and innovative technologies in research projects around the globe. Since 1959, DRI’s research has advanced scientific knowledge on topics ranging from humans’ impact on the environment to the environment’s impact on humans. DRI’s impactful science and inspiring solutions support Nevada’s diverse economy, provide science-based educational opportunities, and inform policymakers, business leaders, and community members. With campuses in Las Vegas and Reno, DRI serves as the non-profit research arm of the Nevada System of Higher Education. For more information, please visit www.dri.edu.

About Renown Health 

Renown Health is the region’s largest, locally governed, not-for-profit integrated healthcare network serving Nevada, Lake Tahoe and northeast California. With a diverse workforce of more than 7,000 employees, Renown has fostered a longstanding culture of excellence, determination and innovation. The organization comprises a trauma center, two acute care hospitals, a children’s hospital, a rehabilitation hospital, a medical group and urgent care network, and the region’s largest, locally owned not-for-profit insurance company, Hometown Health. Renown is currently enrolling participants in the world’s largest community-based genetic population health study, the Healthy Nevada Project®. For more information, visit renown.org.  

About Helix 

Helix is the leading population genomics and viral surveillance company operating at the intersection of clinical care, research, and data analytics. Helix enables health systems, life sciences companies, payers, and government partners to accelerate the integration of genomic data into patient care and public health decision making. Learn more at www.helix.com.   

Wildfire Smoke Exposure Linked to Increased Risk of Contracting COVID-19

Wildfire Smoke Exposure Linked to Increased Risk of Contracting COVID-19

Wildfire Smoke Exposure Linked to Increased Risk of Contracting COVID-19

July 15, 2021
RENO, NEV.

By Kelsey Fitzgerald

Wildfire Smoke
COVID-19
Health

Above: Wildfire smoke has been linked to increased risk of contracting COVID-19, according to the results of a new study. 

Credit: U.S. Department of Agriculture (public domain image)

A new DRI-led study finds a 17.7 percent rise in COVID-19 cases after a prolonged 2020 wildfire smoke event in Reno, Nev.

Wildfire smoke may greatly increase susceptibility to SARS-CoV-2, the virus that causes COVID-19, according to new research from the Center for Genomic Medicine at the Desert Research Institute (DRI), Washoe County Health District (WCHD), and Renown Health (Renown) in Reno, Nev.

In a study published earlier this week in the Journal of Exposure Science and Environmental Epidemiology, the DRI-led research team set out to examine whether smoke from 2020 wildfires in the Western U.S. was associated with an increase in SARS-CoV-2 infections in Reno.

To explore this, the study team used models to analyze the relationship between fine particulate matter (PM 2.5) from wildfire smoke and SARS-CoV-2 test positivity rate data from Renown Health, a large, integrated healthcare network serving Nevada, Lake Tahoe, and northeast California. According to their results, PM 2.5 from wildfire smoke was responsible for a 17.7 percent increase in the number of COVID-19 cases that occurred during a period of prolonged smoke that took place between Aug. 16 and Oct. 10, 2020.

“Our results showed a substantial increase in the COVID-19 positivity rate in Reno during a time when we were affected by heavy wildfire smoke from California wildfires,” said Daniel Kiser, M.S., co-lead author of the study and assistant research scientist of data science at DRI. “This is important to be aware of as we are already confronting heavy wildfire smoke from the Beckwourth Complex fire and with COVID-19 cases again rising in Nevada and other parts of the Western U.S.”

smoke coming from a burning forest

Wildfire smoke may greatly increase susceptibility to SARS-CoV-2, the virus that causes COVID-19, according to new research from the Center for Genomic Medicine at the Desert Research Institute, Washoe County Health District, and Renown Health in Reno, Nev.

Credit: DRI.

Thumbnail image of paper by Kiser et al.

The full text of the study, “SARS-CoV-2 test positivity rate in Reno, Nevada: association with PM2.5 during the 2020 wildfire smoke events in the western United States,” is available from the Journal of Exposure Science and Environmental Epidemiology: https://www.nature.com/articles/s41370-021-00366-w

Reno, located in Washoe County (population 450,000) of northern Nevada, was exposed to higher concentrations of PM2.5 for longer periods of time in 2020 than other nearby metropolitan areas, including San Francisco. Reno experienced 43 days of elevated PM2.5 during the study period, as opposed to 26 days in the San Francisco Bay Area.

“We had a unique situation here in Reno last year where we were exposed to wildfire smoke more often than many other areas, including the Bay Area,” said Gai Elhanan, M.D., co-lead author of the study and associate research scientist of computer science at DRI. “We are located in an intermountain valley that restricts the dispersion of pollutants and possibly increases the magnitude of exposure, which makes it even more important for us to understand smoke impacts on human health.”

Kiser’s and Elhanan’s new research builds upon past work of studies in San Francisco and Orange County by controlling for additional variables such as the general prevalence of the virus, air temperature, and the number of tests administered, in a location that was heavily impacted by wildfire smoke.

“We believe that our study greatly strengthens the evidence that wildfire smoke can enhance the spread of SARS-CoV-2,” said Elhanan. “We would love public health officials across the U.S. to be a lot more aware of this because there are things we can do in terms of public preparedness in the community to allow people to escape smoke during wildfire events.”

More information:

Additional study authors include William Metcalf (DRI), Brendan Schnieder (WCHD), and Joseph Grzymski, a corresponding author (DRI/Renown). This research was funded by Renown Health and the Nevada Governor’s Office of Economic Development Coronavirus Relief Fund.

The full text of the study, “SARS-CoV-2 test positivity rate in Reno, Nevada: association with PM2.5 during the 2020 wildfire smoke events in the western United States,” is available from the Journal of Exposure Science and Environmental Epidemiology: https://www.nature.com/articles/s41370-021-00366-w

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About DRI

The Desert Research Institute (DRI) is a recognized world leader in basic and applied environmental research. Committed to scientific excellence and integrity, DRI faculty, students who work alongside them, and staff have developed scientific knowledge and innovative technologies in research projects around the globe. Since 1959, DRI’s research has advanced scientific knowledge on topics ranging from humans’ impact on the environment to the environment’s impact on humans. DRI’s impactful science and inspiring solutions support Nevada’s diverse economy, provide science-based educational opportunities, and inform policymakers, business leaders, and community members. With campuses in Las Vegas and Reno, DRI serves as the non-profit research arm of the Nevada System of Higher Education. For more information, please visit www.dri.edu.

About Renown Health

Renown Health is the region’s largest, local not-for-profit integrated healthcare network serving Nevada, Lake Tahoe, and northeast California. With a diverse workforce of more than 7,000 employees, Renown has fostered a longstanding culture of excellence, determination, and innovation. The organization comprises a trauma center, two acute care hospitals, a children’s hospital, a rehabilitation hospital, a medical group and urgent care network, and the region’s largest, locally owned not-for-profit insurance company, Hometown Health. Renown is currently enrolling participants in the world’s largest community-based genetic population health study, the Healthy Nevada Project®. For more information, visit renown.org.

About Washoe County Health District Air Quality Management Division –

The Air Quality Management Division (AQMD) implements clean air solutions that protect the quality of life for the citizens of Reno, Sparks, and Washoe County through community partnerships along with programs and services such as air monitoring, permitting and compliance, planning, and public education. To learn more, please visit OurCleanAir.com

Media Contact:

Detra Page
Desert Research Institute
detra.page@dri.edu
702-591-3786

Meet Gai Elhanan, M.D.

Meet Gai Elhanan, M.D.

Gai Elhanan, M.D., is a health data scientist with the Division of Earth and Ecosystems Sciences at the Desert Research Institute in Reno. He specializes in health care informatics, and is a physician with more than 12 years of experience in internal medicine and infectious diseases. Gai received his M.D from Tel Aviv University and his M.A in Medical Informatics from Columbia University. He also completed a NIH post-doctoral fellowship at the Medical Informatics Department, New York Presbyterian Medical Center/Columbia University. In his free time, Gai enjoys listening to jazz and classical music, flying radio-controlled airplanes, and doing woodwork.


What do you do here at DRI?

I came to DRI in 2017 to work with the Healthy Nevada Project. I am a physician by training, so, I am the guy within the Healthy Nevada Project that gives the clinical perspective on the data and questions. I provide the viewpoint of a health professional, whereas the other people on the team are geneticists, data scientists, or have backgrounds in other scientific fields. We sometimes collaborate with the physicians at Renown, cardiologists or other specialists, but they are very busy taking care of their many patients; we can’t really utilize them to the extent we would like. So, that is exactly where I come in. It might not be that I am the most up-to-date in every field of medicine, but I bring the clinical perspectives and medical knowledge to the team.

One of your specialties is in health care informatics. Can you tell us a little bit about this field of study?

Yes, I’ve been involved with health informatics for 20-something years now. Basically, it’s a very broad field that investigates how data can be used to improve health care. In health care, we have vast amounts of data, and we don’t use it optimally. When you visit a doctor, everything is coded – your diagnosis, procedures, medical services. These codes are mostly used for billing purposes, but we can also extract clinical information for research. For example, We can utilize the genomic information we collect from the HNP participants and correlate it to clinical findings and diagnoses in the electronic medical records to try and predict risk and factors that are associated with outcomes of certain conditions.

In health care informatics, we look at how data should be presented for research or patients or clinicians, and how to draw conclusions from the data. By improving the utilization of the data within the electronic health record, we improve the quality and efficiency of the care provided, we improve the ability to do research on the data and, overall we improve the health of the population. How to get the right data, how to organize it, and how to present it optimally for each task are all very important things.

What are you working on right now with the Healthy Nevada Project?

Right now, with the Healthy Nevada Project, we’re trying to improve participation for specific groups of individuals. Originally the Healthy Nevada Project was testing whoever walked in, they were encouraged to provide their saliva and join the project. But now, for several reasons, we’re also trying to improve targeted recruiting in order to better represent the actual population of the region. So, we’re trying to identify who might be good potential participant for the project, and work with Renown’s research coordinators and ambassadors for the project to reach out to people who we would like to have participate.

I am also working on a project with Gilead, the pharmaceutical company, concerning a condition called NASH (non-alcoholic steatohepatitis). NASH affects a significant portion of the population here in Northern Nevada, and can result in life threatening outcomes. This is a strategic collaboration to collect and analyze genetic and electronic health data that can enhance the understanding of NASH and potentially inform development of treatment options for the disease.

How did you end up here at DRI?

I did my medical training in Israel, and also did my residency there. We ended up in the U.S. because my wife is originally from the States. She is a physician as well, a pediatrician and an adolescent medicine specialist. I decided that I didn’t want to practice medicine in the U.S., I wanted to do something else. So, in 1995, I got a NIH grant to do a postdoc fellowship at Columbia University in New York. I got a master’s degree there in medical informatics. We came to Reno a few years ago when my wife was offered a position at Renown, and that’s when I started at DRI with the Healthy Nevada Project. Her position didn’t work out and she went back to New York, but I like the potential in the Healthy Nevada Project and the group of people I’m working with so I stayed with the DRI team to keep doing my work.  The team here is a really nice group of people.


To learn more about the Healthy Nevada Project, please visit: https://www.dri.edu/project/healthy-nevada-project/

To learn more about Gai’s work with the Renown Institute of Health Innovation (Renown IHI), please visit: https://www.dri.edu/renown-ihi/