HerediGene: Population Study aims to discover new connections between genetics and human disease. As we learn more about our genes, we can better understand how disease affects our bodies and is passed down. By studying the genes of 500,000 participants over five years, we hope to make discoveries that will improve detection, prevention, and treatment for all kinds of diseases and better healthcare for generations to come. 

 

 

During the COVID-19 pandemic, safety guidelines and HerediGene: Population Study enrollment status are subject to change. Please watch this website for current updates and click here to read about how we're keeping you safe when you visit. We appreciate your help in protecting our community from the transmission of COVID-19 and hope to see you at one of the participating locations soon. 

 

About DNA

Your DNA

What is DNA?


Think of DNA as your own genetic set of instructions. This genetic makeup tells your body how to function and gives you the characteristics that make you, you!

How can you tell if someone has a higher risk for disease based on their DNA?

  • Using genomics, our scientists can analyze your DNA to look for known disease-causing gene mutations. If these are present, it can often indicate a higher risk for related disease.

How can genomics help prevent disease?

  • Knowledge is the first step in prevention! Once we know what diseases you might be more prone to, your Intermountain provider can create a personalized plan of action to help prevent those diseases from developing and catch them at an earlier, more treatable stage.
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About Participation

HG Participation Form

Participation

Who

Any U.S. resident may participate.

What

HerediGene: Population Study aims to make new connections between genes and human disease with the hopes of developing new treatments and increasing our ability to predict and prevent disease. Of the 500,000 participants we intend to enroll, 50,000 of those could be children. Children can join parents in the HerediGene: Population Study by participating in the HerediGene: Children’s Study at Primary Children’s Hospital. Infants, toddlers, and children of all ages can participate.

How

1. Visit one of the participating locations. No appointment is necessary. Walk-ins are welcome.
2. One of our skilled phlebotomists will draw two vials of blood. About 2.5 teaspoons of blood is needed for adults and less than 1 teaspoon for children.
3. We then de-identify your personal health information so your identity is not linked to your blood sample before sending it for DNA analysis. This information can help inform medical research.
4. If we detect a known mutation associated with a condition we can treat, you will be notified and have the opportunity to receive clinical testing to confirm at no additional cost. We predict only a very small number of people will receive a report. Most people will not be contacted after participation.

Why

Your contribution may help improve early detection and new treatment options for future generations of families in Utah and across the globe who are susceptible to conditions such as cancer and heart disease.

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FAQ

young family walking with toddler

For Patients

Who will receive a report on their genetic risks?

  • It is predicted that a very small percentage – about 3% of the population will receive a report identifying a known disease-causing variant that we can manage.
  • Most participants will NOT hear back on the findings, as negative results, in which no known or treatable disease-causing gene mutations were found, will not be reported back. 

Is there a cost to participate? 

  • Not for participants. The HerediGene: Population Study will cover the cost of the research testing and additional confirmation testing if needed.

Who is conducting the HerediGene: Population Study?

  • HerediGene: Population Study is a large-scale collaboration between Intermountain Healthcare and deCODE genetics.

  • The collaboration combines Intermountain’s internationally recognized expertise in precision medicine and clinical care with deCODE’s world-class expertise in human population genetics. The project will be the largest and most comprehensive DNA mapping effort to date in the U.S. from a single population.

Who has access to any information I provide?

  • The data collected during this study will be scrubbed so patient DNA and healthcare records cannot be identified before it is sent to deCODE for sequencing and before it’s utilized in research at both deCODE and Intermountain.

  • Only Intermountain providers can access a participant’s personal health information for healthcare and research purposes, with written consent from a participant. 
  • HerediGene: Population Study will use an honest broker system to ensure confidentiality. The purpose of the honest broker system is to establish a neutral intermediary person or personnel between researchers and institutions, the individual whose blood and data were collected, and the healthcare provider who obtained the samples and data, and thereby, has a responsibility to protect protected health information (PHI). PHI will not be sent outside of Intermountain Healthcare.

  • Study records and data will be secured in Intermountain Healthcare’s and deCODE’s laboratories and offices in locked filing cabinets, password protected computers, and password protected network or cloud systems. Stored data records will be routinely checked by the quality control teams to ensure data security.

Does Intermountain make money from my data?

  • No. As a not-for-profit health system, Intermountain Healthcare is dedicated to lowering health costs and improving care and quality of life for all. The goal of this study is to make clinical discoveries that will help in preventing health problems that put financial and emotional burdens on our communities. 

  • Any funding received for the study is to cover the cost of collecting and testing samples and providing care for patients. 

How is this different from 23andMe or Ancestry.com?

  • HerediGene is a large-scale population study whose aim is to combine detailed genetic data with your medical record information and outcomes so that doctors will have greater ability to prevent and treat diseases before they impact the quality of their patient lives, and eventually the lives of their children and future generations. 

 

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family of 4 walking

For Parents and Children

Can my child and I join the HerediGene Population Study?
Any U.S. resident may participate. Infants, toddlers, and children of all ages may participate in the HerediGene: Children’s Study with written approval of a parent or legal guardian. Children ages seven and older will need to sign a form to participate and receive written approval from a parent or legal guardian. Parents and family members may also consent to join the HerediGene: Population Study.

Is there a cost to participate?
There is no cost to you or your child for participating. The HerediGene: Population Study will cover the cost of the research testing and additional confirmation testing if needed.

Can my child/ I participate at other locations?
Currently, only Primary Children’s Hospital is accepting pediatric samples. Adults may also participate at Primary Children’s as well as the other participating Intermountain locations listed here.

Do I have to participate if my child does?
The study is completely voluntary. No one, including our patients or their family members, is required to participate in this study.

If I choose not to have my child participate, will this impact their level of care?
You can choose not to give permission for your child to take part in the study. If you choose not to participate, your child will still receive quality standard care.

Are there ways to participate without a needle stick/blood draw?
Blood is the only acceptable specimen for the HerediGene: Population Study and the HerediGene: Children’s Study as blood provides the best sample of your DNA for mapping.

Can my child’s sample be collected along with their other ordered labs?
Yes. The goal is to collect the additional two vials of blood for the study at the same time as the labs ordered by your child’s physician for diagnostic testing. Using one “poke,” we can minimize disruption to our youngest patients. If you wish to join the study separately from a physician-ordered blood draw, we will require a draw to obtain the two vials of blood from you or your child.

Can my child participate if they are sick or have a known health condition?
We will enroll children with or without a known or suspected health and/or medical condition. Participation in the HerediGene: Population Study does not replace clinical genetic testing. Also, while study participants can screen negative, that does not mean they are free from the risk of a genetic condition. When participants screen negative, they will not be contacted. Talk to your doctor or genetic counselor if you have a family history of hereditary disease or believe you are at risk for hereditary disease.

Who will have access to my/my child’s healthcare records?
Only Intermountain caregivers and employees from the University of Utah working at Primary Children’s Hospital may access a participant’s personal health information for healthcare or research purposes.

What will Intermountain do with my/my child’s healthcare records?
We will de-identify your and your child’s data for this study so that DNA and healthcare records won’t be associated with you or your child. This de-identified data set is used for research.

Will participation in the HerediGene: Children’s Study help if my child currently has a diagnosis or illness?
We cannot guarantee or promise that your child will receive any benefits from this study. However, if an actionable mutation (or pathogenic variant) is identified in his/her blood that may alter future treatment(s) intended to improve health, you may be contacted. Therefore, there is a potential for short- and long-term benefit with the early detection of a pathogenic variant. We hope the information learned from this study will increase our understanding of precision medicine and improve future treatments in healthcare for all patients.

How long will my child be enrolled in the study?
While there is no planned end date for this study, if your child chooses to leave the study when they are 18 or older, they can submit a written request to Intermountain Precision Genomics. If your child chooses to leave the study as an adult, we will stop collecting information on him/her thereafter, but previously collected blood (and corresponding data) and health information up to withdrawal will be available for this study.

How can my child/I leave the study?
If you or your child decide to stop participating in the study, you can leave at any time. Please refer to the study consent you will receive at the time of enrollment for more information. You can ask us to stop collecting your child’s information by leaving the study, however, we will still be able to use the information and samples we have already collected. You and your child will not be able to join the study again. If you decide to leave the study, your child will still receive the same quality care you would have received without participating in the study.

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HerediGene-Professional

For Health Providers


How does this project empower providers as they treat patients?

  • Knowing if a patient has a disease-causing variant may help providers make more informed and personalized care decisions when working with patients.

  • The research derived from this project may help to advance early detection and new treatment options for patients who are susceptible to diseases such as cancer and heart disease.

Why partner with deCODE genetics? 

  • Intermountain and deCODE have compatible missions and passions for advancing patient care: deCODE is recognized globally for its 20-year-plus effort to collect DNA samples from the entire population of Iceland. Using their unique expertise and population resources, deCODE has discovered key genetic risk factors for dozens of common diseases, ranging from cardiovascular disease to cancer. Meanwhile, the Intermountain Precision Genomics program has made major advancements in the treatment of patients with end-stage cancer.

  • deCODE genetics is a global leader in analyzing and understanding the human genome and has a proven track record for successfully conducting large-scale DNA sampling programs; deCODE has long sought a partner to translate its genetics research into direct clinical care, which Intermountain is uniquely able to do. The partnership with Intermountain will be enabled by and complimentary to deCODE’s expertise.

What is Amgen’s role in the HerediGene: Population Study?

  • deCODE genetics is a wholly owned subsidiary of Amgen that operates in an independent fashion to analyze and understand the human genome. deCODE’s insights into human disease through genetic analysis (based on their existing work and further enabled by this partnership with Intermountain) will provide Amgen researchers the unique opportunity to discover and develop medicines to treat the most serious of human diseases. 

  • Amgen researchers will utilize the data and results from the partnership to gain new insights into human biology and disease which will greatly aid Amgen’s drug discovery and development efforts.
  • The ultimate goal of the partnership is aligned and shared between Intermountain, deCODE, and Amgen and that is to change the practice of medicine and treatment of disease to benefit the patients we collectively serve.

  • Together, Intermountain, deCODE, and Amgen have the unique opportunity to help create new forms of diagnosing, treating, and preventing disease.

Why is Intermountain as a not-for-profit working with a for-profit company? 

  • Intermountain is committed to serving the population of Utah, Idaho, and Nevada. Our mission is helping people living the healthiest lives possible®. Partnerships like this one bring us even closer to that mission by helping us accelerate discovery. 
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