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.   

Childhood trauma and genetics linked to increased obesity risk

Childhood trauma and genetics linked to increased obesity risk

HPN Renown and DRI Logos

March 9, 2022
RENO, NV

Childhood Trauma
Genetics
Obesity

Above: The logos for the Healthy Nevada Project, DRI, and Renown Health.

Credit: DRI.

Childhood trauma and genetics linked to increased obesity risk 

New study from the Healthy Nevada Project® shows strong influence of genes and environment on human health 
Front page screenshot of Healthy Nevada Project study

The full text of the study, The Impact of ACEs on BMI: An Investigation of the Genotype-Environment Effects of BMI, is available from Frontiers in Genetics: https://www.frontiersin.org/articles/10.3389/fgene.2022.816660/full

Reno, Nev. (March 9, 2022)New research from the Healthy Nevada Project® found associations between genetics, obesity, and childhood trauma, linking social health determinants, genetics, and disease. The study, which was published this week in Frontiers in Genetics, found that participants with specific genetic traits and who experience childhood traumas are more likely to suffer from adult obesity.  

In 2016, DRI and Renown Health launched the Healthy Nevada Project®, the nation’s first community-based, population health study, which now has more than 60,000 participants. The project is a collaboration with personal genomics company, Helix, and combines genetic, environmental, social, and clinical data to address individual and community health needs with the goal of improving health across the state and the nation.  

The new study focuses on Adverse Childhood Experiences (ACEs), which are traumatic and unsafe events that children endure by the age of 18. Over 16,000 participants in the Healthy Nevada Project® answered a mental health survey, and more than 65 percent of these individuals self-reported at least one ACE occurrence. These 16,000 participants were cross-referenced with their genetic makeup, and clinical Body Mass Index (BMI) measures.  

According to the research team’s findings, study participants who had experienced one or more types of ACE were 1.5 times more likely to become obese adults. Participants who experienced four or more ACEs were more than twice as likely to become severely obese.    

“Our analysis showed a steady increase in BMI for each ACE a person experienced, which indicates a very strong and significant association between the number of adverse childhood experiences and adult obesity,” said lead author Karen Schlauch, Ph.D., of DRI. “More importantly, participants’ BMI reacted even more strongly to the occurrence of ACEs when paired with certain mutations in several genes, one of which is strongly associated with schizophrenia.” 

“We know that genetics affect disease in the Healthy Nevada Project® [https://pubmed.ncbi.nlm.nih.gov/31888951/], and now we are recognizing that ACEs also affect disease,” said Healthy Nevada Project® Principal Investigator Joseph Grzymski, Ph.D., of DRI and Renown Health. “Our new study shows that the combination of genes and environmental factors like ACEs, as well as many social determinants of health, can lead to more serious health outcomes than either variable alone. More broadly, this new work emphasizes how important it is for population genetic studies to consider the impact of social determinants on health outcomes.” 

The study team believes that it is important for clinical caregivers to understand the strong impact that negative childhood experiences such as ACEs can have on both child and adult health. The researchers hope the information from this study will encourage doctors and nurses to conduct simple screenings for ACEs and consider a patient’s social environment and history in combination with genetics when developing treatment plans for better patient health. 

According to the 2019 Youth Behavior Risk Survey (YRBS), 25.6 percent of Washoe County teenagers are overweight or obese. Obesity is a serious health concern for children and adolescents. According to the Centers for Disease Control and Prevention, obese children and adolescents are more likely to become obese as adults.   

“Obese and overweight children and adolescents are at risk for multiple health problems during their youth, which are likely to be more severe as adults,” said Max J. Coppes, MD, PhD, MBA, FAAP, Nell J Redfield Chair of Pediatrics at the University of Nevada Reno School of Medicine, Physician in Chief of Renown Children’s Hospital. “Obese and overweight youth are more likely to have risk factors associated with cardiovascular diseases, such as high blood pressure, high cholesterol, and type 2 diabetes. Losing weight, in addition to a healthy diet, helps to prevent and control multiple chronic diseases and improves quality of life for a lifetime.”  

“We’d like to thank all of the Healthy Nevada Project® participants who provided information to make our work possible,” said Robert Read, M.S., of DRI. “Our research illustrates that it’s not just genetics that cause disease, but that our environment and life experiences interact with our genes to impact our health in ways that we are only beginning to understand.” 

Many thanks to Renown Health, the Stacie Mathewson Behavioral Health and Addiction Institute, and the Center for Genomic Medicine at DRI for supporting this significant work. 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. 

More information: 

The full text of the study, The Impact of ACEs on BMI: An Investigation of the Genotype-Environment Effects of BMI, is available from Frontiers in Genetics: https://www.frontiersin.org/articles/10.3389/fgene.2022.816660/full 

This project was funded by the Stacie Mathewson Behavioral Health and Addiction Institute, Renown Health, and the Renown Health Foundation. Study authors included Karen Schlauch (DRI), Robert Read (DRI), Iva Neveux (DRI), Bruce Lipp (DRI), Anthony Slonim (Renown Health), and Joseph Grzymski (DRI/Renown Health). 

For more information on the Healthy Nevada Project®, please visit: https://healthynv.org/ 

###

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 

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. 

Media contacts: 

Kelsey Fitzgerald, DRI
Senior Communications Official
775-741-0496
Kelsey.fitzgerald@dri.edu 

Renown Public Relations
775-691-7308
news@renown.org 

Study provides new insight into how microbes process nitrogen

Study provides new insight into how microbes process nitrogen

Reno, Nev. (Feb. 19, 2019): Microbes play a key role in Earth’s nitrogen cycle, helping to transform nitrogen gas from the atmosphere back and forth into organic forms of nitrogen that can be used by plants and animals.

New research from the Desert Research Institute in Reno, Nev. provides new insight into how this process happens, through the examination of a unique species of microbe called Intrasporangium calvum that was found in a contaminated groundwater well at Oak Ridge National Laboratory Field Research Station in Tennessee.

The study, which published in Frontiers in Microbiology in January, examined the response of I. calvum to different concentrations of environmental resources and how those differences impacted the microbe’s nitrogen cycling ability. The study team also investigated the evolution of this microbe, the biochemistry behind the reactions, and how each of those factors interact with the environment.

Although most microbes perform just one step in the nitrogen cycle – converting nitrogen gas (N2) from the atmosphere to ammonia (NH3) in the soil, for example – the research team discovered that I. calvum could perform two types of reactions: respiratory ammonification and denitrification. Respiratory ammonification retains nitrogen in an ecosystem as ammonium in the soil or water, while denitrification sends nitrogen on a path back to the atmosphere as a gas.

“The microbe that we studied is unique because it can essentially ‘breathe’ in nitrogen and then send the nitrogen along one of two pathways, ‘exhaling’ either ammonium or nitrous oxide,” said David Vuono, Ph.D., postdoctoral researcher fellow with DRI’s Division of Earth and Ecosystem Sciences and Applied Innovation Center, and lead author of the new study. “This is kind of like humans breathing in oxygen and then having the ability to exhale either carbon dioxide or methane.”

Sample bottles of I. calvum are sterilized via flame in the Genomics Laboratory at DRi. February 2019. Credit: DRI.

With the ability to perform more than one type of reaction – either sending nitrogen back to the atmosphere or retaining it in the soil or water – Vuono and his team wondered what would trigger the microbe to select one pathway versus the other. Previous studies had concluded that the ratio of carbon (C) to nitrate (NO3) in the surrounding environment was the determining factor, but Vuono wondered if the story wasn’t actually more complex.

In this study, Vuono and his team looked beyond the C:NO3ratio to investigate the importance of the overall concentration of each nutrient. They tested the response of I. calvumunder conditions of both high and low resource availability, while keeping the ratio of C:NO3at a constant level.

According to their findings, it is the resource concentration, rather than the C:NO3ratio, that determines pathway selection. When grown under low carbon concentrations, the team found that these microbes were more likely to process nitrogen by ammonification; under high carbon concentrations, denitrification prevailed.

“As we learned, the concentration of nutrients available to these microbes is what determines where the nitrogen ends up, whether it takes a pathway back towards the atmosphere or returns to ammonium,” Vuono explained. “That is a really important distinction, because depending on the environment that you’re in, you may want to remove nitrogen or you may want to retain it.”

In a waterway, for example, high levels of nitrogen can cause algae blooms and dead zones; by creating conditions that favor denitrification, it is possible that microbes could be triggered to send nitrogen back to the atmosphere. In an agricultural field, on the other hand, nitrogen deficiencies in the soil can lead to poor plant growth; by creating conditions that would promote respiratory ammonification, microbes could be prompted to retain nitrogen in the soils, eliminating or lessening the need for chemical fertilizers.

David Vuono, Ph.D., prepares a sample of I. calvum for analysis in the Laboratory of Molecular Responses at DRI. February 2019. Credit: DRI.

This study was funded by the Nevada Governor’s Office of Economic Development (GOED), the Desert Research Institute postdoctoral research fellowship program, Ecosystems and Networks Integrated with Genes and Molecular Assemblies (ENIGMA), and Oak Ridge National Laboratory (US Department of Energy, Office of Science, Office of Biological and Environmental Research).

Other DRI scientists who contributed to this study included Robert Read, John A. Arnone III, Iva Neveux, Evan Loney, David Miceli, and Joseph Grzymski.

The full study, titled Resource Concentration Modulates the Fate of Dissimilated Nitrogen in a Dual-Pathway Actinobacterium, is available online from Frontiers in Microbiology (22 January 2019): https://doi.org/10.3389/fmicb.2019.00003