The Gene Health Project at WellSpan

DNA contains the genetic information that provides the instructions that led to you, including your physical traits (like eye color) and insights into your ancestral roots, but also provides health information. There are many similarities in everyone’s DNA, but there are important differences, and your DNA code is unique to you. We are still learning how DNA impacts health. The insights we learn from studies like The Gene Health Project will help us provide more personalized health care for our patients and community.

WellSpan patients, aged 18 years and above, who meet the following criteria are eligible to participate in the research program:

• Speak English fluently or as your primary language (additional languages will be added soon).
• Do not have a history of an allogenic bone marrow transplant.
• Do not have a history of a stem cell transplant.

We want to make sure you understand what is involved in the study so you can make an informed decision about your participation in this project. Signing up is simple and something you can do from home. If you decide to participate, we will ask you to answer a few questions to confirm you are eligible, and then you will have the opportunity to review and sign The Gene Health Project research consent form, which provides confirmation of your informed consent.

The consent process

• Create a MyWellspan account if you don’t already have one.
  • Instructions for creating a MyWellSpan account.
  • Or, email GeneHealthProject@wellspan.org. with your full legal name and date of birth to indicate your interest in the project.
• You will receive an email from Helix to the email address associated with your MyWellSpan account with a link to answer the eligibility questions to determine your ability to participate.
• Once your eligibility is confirmed, the research consent form will be available to you for review. Please read over the consent form carefully. If you have any questions about the study or the form, you can contact a member of The Gene Health Project study staff at (717) 356-5395 or GeneHealthProject@wellspan.org.
• Sign the form and keep a copy for your records. You will then receive a message in your My WellSpan account to schedule your blood draw.

Please note: The information provided before informed consent is signed may be stored by WellSpan and/or Helix to keep track of potential participants in order to contact those who are interested and allow consent for only those who are eligible.

No. Research studies include only people who volunteer to participate. It is your choice whether you want to take part in this study and your decision will not impact your care at WellSpan.

About 1 to 2 people out of 100 will be found to have a genetic variant which may put them at risk for one of the inherited cancers and/or heart conditions that are reported on as one part of this study. These participants will have an opportunity to speak with a genetic counselor, who will explain how to interpret the results and recommend follow-up clinical care. Additional results with clinical importance may also be reported on and made available to you in the future as our understanding progresses.

You are still eligible to participate, and it is possible additional, valuable findings may result from your participation in the project.

Typically, your ancestry and traits results are ready within 8 weeks of the Helix lab receiving your sample. It takes about another month before your health results are ready to view, because extra steps are taken to ensure your results are accurate. Helix will email you when your results are ready to view in the Helix online portal on Helix.com. Additionally, your CDC Tier 1 (Hereditary Breast and Ovarian Cancer, Lynch Syndrome, Familial Hypercholesterolemia) health results will be returned to your medical record, and you will receive a MyWellSpan message notification when that happens.

Creating a Helix account will give you access to additional information and features that are not available in your MyWellSpan account, such as:

• Dashboard view of the status of your results – from when your sample is received in the lab to when your results are ready.
• Learning about your ancestry and traits information.
• Ability to easily download a PDF version of your Helix Health results report when available.

Genetic traits results are based on the likelihood of a trait, not certainty. When a given trait is reported, it is a probability that an individual will express the trait in question. This is based on several genetic markers that have been associated with the trait. Because the result is a probability, there is still a chance that the individual does not express the trait, such as curly hair. There are a couple of key reasons that an actual trait may not match a reported trait:

• The trait in that individual is determined by a genetic marker not included in our test because it is not yet discovered or is very rare in the population.
• Other factors such as environmental exposures or gene-gene interactions impact the trait and how it is expressed in an individual and may have greater influences than the genetic marker itself.

This is different than when we identify a genetic change that increases a person’s risk for certain health conditions, like those included in the CDC Tier 1 results that are included as part of the study. For these conditions – hereditary breast and ovarian cancer, hereditary nonpolyposis colorectal cancer, and familial hypercholesterolemia – the clinical community has gathered extensive evidence showing that changes in specific genes are associated with a significantly higher risk for developing the condition. So, we look for those specific, well-established changes.

Unlike traits or ancestry testing where we’re trying to describe patterns, when assessing a person’s risk for health conditions, we’re answering a binary question: Are the DNA changes associated with the condition present, or not?

Yes, your CDC Tier 1 health results will be saved in your medical record and your healthcare provider will have access to them to potentially help inform your future care plans.

Over time, more health-related results may be available to you as researchers and health care providers learn more about how DNA impacts human health. You may be contacted in the future if more information or samples are needed. However, you do not have to agree to provide more information or additional samples if you do not want to.

If you have received a "test not performed message" it means your sample was not able to be processed in the Helix lab for DNA testing. There are several reasons why this may occur, and the Helix lab does not determine the specific reason why. Some reasons may be resolved by collecting another sample, therefore we give you information on how to provide another sample if you have only provided one sample or the next steps if you have already provided two samples. If you have additional questions about your samples you may contact The Gene Health Project study staff for more information.

Yes! You’re welcome to participate in other research studies while part of The Gene Health Project.

Yes! You can register for The Gene Health Project even if you’re already taking part in another research study.

Your results will not impact your health insurance. The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information.

While the federal law, GINA, provides protection related to health insurance and employers (with > 15 employees), GINA does not prohibit providers of life, disability, and long-term care insurance from asking about and using genetic information. Some companies may require a review of your medical information prior to making a coverage decision. Since the results of genetic testing will become part of your medical record, your genetic information could be used as part of the coverage decision along with your other health information. It is important to note WellSpan Health and Helix do not sell your data to insurance companies. Also, some states have additional protections for these types of insurance, so you may want to learn more about laws in your state. If you already have a policy, new information about your health (including genetic information) generally may not be used to deny you continuing coverage under those policies.

The information you contribute to The Gene Health Project will be used by researchers to study a wide range of questions around how DNA can impact health. That means, by agreeing to participate in the study, you may be contributing to future discoveries, and you are agreeing to have your information possibly included in future research projects that are approved by us and by our partner, Helix.

It is important to note that any researcher outside of WellSpan Health will NOT have access to information that may directly identify you. Furthermore, all research proposals will be carefully reviewed and approved to make sure they are ethical, secure and that they protect your privacy.

Your privacy is very important to us, and we take many steps to ensure it is protected, such as:

• Your information (your genetic information and health records) will be stored in secure databases.
• We limit and closely monitor who can access your data.
• We limit who is allowed to see information that could identify you, like your name or contact information.
• Researchers who have access to your data must be trained and certified to work with this type of research data.
• You can choose to withdraw and stop sharing your information at any time.

You may withdraw from the study at any time. Your decision to withdraw will not result in any penalty or loss of benefits and will not affect the medical care or benefits to which you are otherwise entitled.

In order to withdraw, please send an email to the WellSpan study team at email - Genehealthproject@wellspan.org.

If you withdraw from the study, you will no longer receive any emails or other communication as part of the study. Any information that has already been added to your medical record will remain in your medical record. However, no new information from the study will go into your medical record. Your withdrawal from the project will be appropriately noted in your medical record.