A Study for the Ages: Intermountain Healthcare’s ambitious HerediGene

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Intermountain Healthcare’s ambitious HerediGene: Population Study will yield information to bless generations of researchers, doctors and patients

My great-grandpa died in 1942 from kidney disease. His daughter (my grandmother) passed away in 1984 from cancer. In 2020, I followed in my ancestors’ footsteps and had my own unexpected diagnosis: Thyroid cancer. I am now cancer-free, due to early detection and successful treatment. I’m grateful to live at a time of advancing research and medical treatments that led to favorable outcomes.

   I want to be part of helping researchers learn even more so my children and grandchildren will have an even greater chance of preventing and living through their own health challenges. When I heard about Intermountain’s HerediGene Population Study, I knew I wanted to participate.    

   In fact, I’m one of more than 100,000 people so far to donate blood to HerediGene. I simply registered at HerediGene.org and then went to an Intermountain lab for a free blood draw. Scientists will now analyze my DNA for connections between genes and disease. A small percentage of participants in the study will likely be found to have disease-causing variants in their DNA that can be treated, and they may be contacted to receive genetic counseling. If I receive word that I am a candidate for genetic counseling and further appointments, I will share my experiences in future posts and articles. I believe communicating about our experiences is an important part of research. 

   Registering for HerediGene is simple – it takes about 10 minutes to complete the consent form. The goal is to have 500,000 participants, and I would love for thousands of those to come from Utah Valley Magazine readers who want to create a better world for upcoming generations.

Not A Quick Study

   Intermountain Healthcare’s HerediGene: Population Study, led by Dr. Lincoln Nadauld, is an ambitious undertaking to collect, record and analyze the genetic codes of 500,000 individuals from around the United States. The genetic data — which is de-identified and anonymous when recorded — will be used for decades to help specialists better understand the genetic predisposition of certain diseases and maladies.

   “This study is massive, and the information we find could be enough for a researcher’s entire career,” says Tyler Barker, Ph.D., senior scientist at Intermountain Medical Center in Murray who is working closely with Dr. Nadauld on the research project.

   In fact, the goal of 500,000 participants means there will be more test subjects in this one study than in all of Intermountain Healthcare’s other studies combined. Participation is easy and can often occur when having blood drawn for other purposes. Individuals fill out a consent form online at HerediGene.org and then go to any Intermountain Healthcare lab for a simple blood draw. That blood is then collected, de-identified and sent to deCODE genetics, a research laboratory company in Iceland that is a world-leader in genetic coding and data analysis.

   The two organizations — deCODE and Intermountain — then utilize the information to find genetics-based causality between certain gene mutations and related diseases. While some well-known genetic markers — like mutations to the BRCA1 and BRCA2 genes that lead to a higher risk of breast cancer — will be easily identifiable in the blood tests, other correlations will need to be studied and identified from the data collected.

   “With this study, HerediGene provides the ability to collect the samples, to send them to deCODE genetics and then to annotate electronic medical records with sequencing from the blood,” Dr. Barker says. “There will be substudies that are disease specific, so it will be information that should benefit a wide range of medical areas for a long time to come.”

   For example, the study has already yielded information that led to the discovery of six common genetic variants associated with vertigo.

   Dr. Barker has specific interest in the musculoskeletal system and has seen connections that may help him and other researchers understand genetic conditions that may lead to osteoarthritis.

   “This study is going to be groundbreaking for researchers and physicians, of course, but for patients, too,” Dr. Barker says. “This is really about how can we get the best care to the patients we’re serving.”

   While most participants won’t hear back from the HerediGene study, a small number of participants may eventually be contacted — after the data goes through an intense “re-identification” process — about any genetic variations associated with a condition that can be treated. (Participants can opt-out of the notifications.) From there, participants have the opportunity to receive clinical testing to confirm the findings at no cost. However, it is expected that only a small number of people will have a variant Intermountain Healthcare can report on.

   For those who aren’t contacted, the HerediGene: Population Study is the ultimate altruistic, community-minded act. It’s the genetic research version of planting a tree you’ll never get to enjoy the full shade of, but are happy that your children and grandchildren will.

HerediGene: Population Study FAQs

Do I need an appointment to donate a blood sample to the study?

   No appointments are necessary. You may sign up online at HerediGene.org. Then, visit an Intermountain lab or draw station to donate a small blood sample to the study. Walk-ins are welcome.

What happens after I sign consent online?

   Drop by an Intermountain lab or draw station and let them know you’re there to donate blood for the HerediGene study. A skilled phlebotomist will perform a simple blood draw. Less than 2.5 teaspoons of blood are all that is needed.

If I get regular lab work ordered by my provider, can I wait to donate my blood sample until my next draw?

   If you have a scheduled blood draw within 90 days after you fill out your consent online, your provider can draw blood for HerediGene at the same time as other lab work.

What happens after my sample is drawn?

   Your blood sample will be de-identified and given a random number. This protects your privacy so researchers can analyze the DNA without knowing your name or private information.

   If the blood draw detects a genetic variation associated with a condition that is treatable, you can choose to be notified and have the opportunity to receive clinical testing to confirm at no cost. If clinical tests do identify a treatable genetic variant, a federal act called the Genetic Information Nondiscrimination Act (GINA) protects you from genetic discrimination in health insurance and employment. This means health insurers cannot use your results as a reason to deny coverage or determine premium prices, nor can your employer base decisions about your employment on your genetic results.

Will I receive a report on genetic risks?

   It is predicted that a very small percentage – about 3 percent of the population – will receive a report identifying a known, disease-causing variant. You can choose to learn your results or refuse them.

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