At the Pediatric Genomics Discovery Program (PGDP) at Yale, we offer patients and their families with potential undiagnosed genetic diseases an opportunity to be evaluated by a team of physician-researchers specializing in genetics.
Roughly one in 30 babies born in the United States each year has a genetic condition. These conditions can range from abnormal limbs, to a permanently weakened heart, to an overly curved spine. In some cases, a medical team might be able to identify, at a cellular level, the exact cause of a condition. In other cases, however, the cause of a child's disease remains unclear even after extensive evaluation and testing.
We want to study undiagnosed genetic diseases because it will help us understand what these conditions are, what might happen to people with these conditions, and what doctors could potentially do to treat them.
How will this study help me?
We hope to provide some answers for you or your child’s condition, although we can’t know ahead of time if we will find all the answers. Your participation could help others with similar conditions in the future.
What do I need to do to get started?
Here is how you can participate:
Learn more about the study by reviewing the information on this website.
Sign up using our online consent process through this link: [LINK to e-consent form]. We will ask you to provide some background information about you, the best way to contact you, and your consent to participate in our study.
Provide us with samples from kits that we will ship directly to your home. Our team’s medical experts will then reach out to you to learn your story and gather any additional medical information we might need.
Our team will take it from there.
What samples do I need to provide?
Most of the time, a saliva sample is all we need. If we ask for further samples, these will most likely be additional saliva. However, in rare cases, we may ask for a blood sample.
By enrolling in this study, you are giving us permission to ask for, collect, and use additional samples for study purposes. You can change your mind or decline to provide samples at any time—it is completely up to you.
What will the research team do?
We will use the samples you provide us to perform a state-of-the-art, comprehensive genetic analysis. With that, we may be able to detect previously undiscovered genetic causes of your child’s genetic disease that are not identified by conventional clinical testing.
Is my family eligible to participate?
To participate in the study, the affected child, Mom, and Dad will each need to provide informed consent. Both biological parents must be 18 years of age or older and be able to give legal consent.
What is the cost?
There is no cost to participating in this study.
Will I be paid for participating?
There is no compensation for enrolling in this study. However, if we do find genetic abnormalities, we will pay for an official genetic test for you if you want your doctors to know about this new information.
What are the risks?
To protect your personal information, your data and samples will be highly encrypted, secured, and confidential per federal regulations. However, there is always a small risk that your personal information could be leaked to others.
There may be tension between you and others in your family, if they did not want the genetic testing to occur. We encourage participants to speak with family members and make sure everyone is on board.
Finally, there is a theoretical risk that your genetic information might affect insurance plans or job opportunities, but there are strict laws in place to protect you from these kinds of discrimination.
Will my samples and data be shared?
Personal identifying information (such as name, address, and date of birth) will not be shared, now or in the future.
De-identified data and samples may be shared with researchers and doctors around the world in databases, presentations, and publications protected by the United States National Institutes of Health (NIH) Genomic Data Sharing Policy.
How and when can I expect to receive my child’s genetic testing results?
To receive your child’s genetic testing results, Mom, Dad, AND the affected child will each need to provide permission for study results to be returned to your family.
Please keep in mind that research takes time and results cannot be guaranteed within a specific time frame.
Who can I contact for more information about the study?