Browse through these FAQs to find answers to commonly raised questions. We also encourage you to read through the other pages of this website. If your question is not answered, please reach out to us by email at raregenomes@broadinstitute.org or by phone at 617-714-7395 (Toll-free: 855-534-4300).
What is the goal of The Rare Genomes Project?
The goal of the Rare Genomes Project is to discover the genes underlying previously undiagnosed rare, genetic conditions by providing access to genomic sequencing to families affected by rare disease.
What does "undiagnosed" mean?
For our project, we use this term to mean “genetically undiagnosed.” Genetically undiagnosed patients do not have a genetic change(s) identified that explains their symptoms. These patients may or may not have a clinical diagnosis, which is based on symptoms and other types of medical test results.
For example, individuals are most often diagnosed with cystic fibrosis based on physical symptoms and a sweat test. This is a clinical diagnosis. Having genetic testing that identifies two variants in the CFTR gene that cause cystic fibrosis is a genetic diagnosis.
Who is conducting the research?
The Rare Genomes Project was launched by researchers Daniel MacArthur, PhD and Heidi Rehm, PhD at the Broad Institute of MIT and Harvard. We are also working in collaboration with Monkol Lek, PhD from Yale University, Eric Liao, MD from Massachusetts General Hospital, and the Lab for Molecular Medicine at Partners HealthCare Center for Personalized Medicine.
Our team is made up of researchers, physicians, software developers, genetic counselors, and study coordinators. Learn more about us here.
Do I have to travel to the Rare Genomes Project office in Massachusetts to participate?
No. Participation is entirely remote.
Are there any costs to participate?
There are no costs to you to participate in this study. Everything you need to participate, including the cost of sample collection, genomic sequencing, and clinical confirmation genetic testing, will be covered by us.
Will I receive medical care and/or treatment from the Rare Genomes Project?
No. Medical care and treatment will not be provided as part of this research study.
What role does my medical provider play in this study?
While we do not require involvement in the application process, a family's clinician can help individuals identify pertinent medical records and is also critical in partnering with us to clinically confirm and return results to families.
What type of sample will I be asked for?
We request one small tube of blood. In rare cases, we have worked with families to explore alternative sample types.
What type of genetic testing is performed by the Rare Genomes Project?
The Rare Genomes Project performs whole genome sequencing (WGS). WGS is a different test than whole exome sequencing (WES), which is a more focused test that is more commonly covered by insurance companies. Sometimes, we may perform additional tests including RNA sequencing. To learn more about WGS and other types of genetic testing, we recommend reading through the U.S. National Library of Medicine's MedlinePlus website.
I have already had whole genome sequencing. Will the Rare Genomes Project accept my external data for reanalysis?
On a case-by-case basis. If you have had prior genomic sequencing, fill out an application to our study and indicate that you have prior sequencing data available. If your application is accepted, we will reach out to you and discuss the next steps. Due to the resources involved in obtaining and incorporating data from other sources, it is sometimes more time and cost effective for us to sequence your genome again.
Who should apply to participate?
Patients and families with rare, suspected genetic disease. To see if the Rare Genomes Project might be appropriate for your family, visit our Eligibility Criteria page for more detailed information.
Can I apply if I live outside the United States?
We currently are only able to enroll individuals that live in the United States.
Who in my family should participate?
The nature of this project requires that the person in your family with the undiagnosed genetic condition participate. Participation by additional family members, especially both biological parents and any additional affected family members, improves our chances of finding the genetic cause of the rare, undiagnosed condition, but participation by others is not a requirement. Studies have shown that analysis of parents along with affected children increases the likelihood of diagnosis from 22% to 31% (Lee et al. 2014).
Can I still apply to the Rare Genomes Project in cases of adoption or if one biological parent is unavailable?
Yes. We accept individuals regardless of the availability of other family members to participate. In cases where one biological parent is unavailable, we may ask about the availability of their other relatives.
If I complete an application, will I automatically be able to participate?
No. Our clinical team reviews each application to determine whether the individual or family is a good fit for this study. In some cases, we may need to review your medical records in order to make a determination. To learn more, visit our Eligibility Criteria page.
Why was my application to the Rare Genomes Project not accepted?
There are many reasons an application may not be accepted. Some reasons include: the condition is not likely to be caused by a change in a single gene, the approach taken by our study is not likely to diagnose the condition in question, or we believe a genetic diagnosis has already been identified. You can read more about our eligibility criteria here.
How and where do I get my blood drawn?
We will mail you a pre-paid specimen collection kit for you to have your blood drawn at a location of your choosing. We have partnered with Quest Diagnostics, a company with thousands of blood draw locations across the United States and Puerto Rico, who will draw blood for the study and bill us directly. Alternatively, you can have your blood drawn by a local provider. If you are billed for this, send us a receipt for reimbursement.
Regardless of where you have blood drawn, please confirm with the technician that they have labeled both the blood tube and the paperwork with your legal name and date of birth.
What happens after I return my blood kit?
After your kit is sent back to us, we will extract DNA from the blood sample and prepare it for DNA sequencing or targeted testing.
Who in my family will get their genome sequenced?
It depends. Typically, we perform genome sequencing on the affected individual(s) in the family and their biological parents, when possible. We typically only perform targeted testing for specific variants of interest in unaffected family members.
What medical records are needed?
We require medical records from the affected family member(s). For more information about the types of records that are needed, please see our Guide to Sharing Health Information.
What else might I be asked to share if I participate in this project?
We may inquire about the availability of excess tissue from clinical procedures for additional testing. Because this study does not include a physical examination by study staff, we may also ask participants to share a photograph; this is optional.
Why am I being asked for photographs?
We may ask for photographs of the member of the family with the undiagnosed condition. Some genetic syndromes are known to cause characteristic or subtle facial features that we consider when determining if a participant’s condition is related to a genetic variant. Photographs are considered part of the patient’s medical record and will not be shared externally without permission.
When should I update study staff?
It is important to contact us if you change your contact information (such as phone number or address) or have new medical information you wish to add to your file (such as a new symptom, a genetic diagnosis from another source, or the development of the condition in other family members.)
Can I withdraw from the project?
Yes, you can withdraw from the project at any time. If you do, your samples and your information will be destroyed. However, it will not be possible to destroy samples and information that have already been shared with other researchers. If you decide to withdraw your permission, you should contact us in writing at raregenomes@broadinstitute.org.
Will I receive results?
Our goal is to find the genetic explanation for the undiagnosed condition in each family who enrolls, but we cannot guarantee that we will have a result for each family. If we find a genetic variant(s) that may explain the genetic condition in the family member with the condition, we work with them to clinically confirm and return the results. We do not return results to unaffected family members.
Will I receive results unrelated to the rare condition for which I applied?
We do not actively search for genetic results unrelated to the rare condition in the family. However, if we find a genetic variant that causes a condition with treatment implications, we will contact you to discuss the option of clinically confirming the result to have it returned.
How will I receive my results?
You can only receive results that have been confirmed in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. If we find results that we believe may explain the underlying cause of the rare condition present in your family, we will contact you and ask if you would like to have the findings clinically confirmed in a CLIA-certified laboratory. A genetic counselor on our staff will work with a doctor of your choice to order testing through the CLIA lab. The doctor who orders the clinical test will be the one who shares the results with you.
How will my genetic data be shared?
One of the goals of this project is to improve rare disease diagnosis for participants and the rare disease community as a whole. Data sharing supports this goal by allowing researchers and clinicians around the world to access and perform research on the de-identified genetic data generated in this project. Learn more about how we share de-identified data here.
Can I have access to my genetic sequencing data?
Unfortunately, no. Because the genomic sequencing in this study will be performed in a research laboratory (non-CLIA laboratory), federal regulations prohibit us from directly releasing your sequencing data to you. However, we are permitted to release data to other research studies at your request.
Can outside researchers access data generated as part of this project?
Yes. If you are a researcher looking for more information, please visit our data sharing page.
Can outside researchers request samples from this study for use in their own research?
In some cases, we may share de-identified samples with external collaborators. Please contact us to learn more.
How can I refer families with rare and undiagnosed genetic conditions to this project?
If you know families who might benefit from participation in the Rare Genomes Project, please direct them to our website or have them contact us at raregenomes@broadinstitute.org. If you would like to share your participation with others, feel free to post the link to our website on your social media pages so that more families can learn about the project.
If you are a clinician who cares for a patient you believe could benefit from the Rare Genomes Project, encourage the family to fill out an online application on this website and have them indicate your name when asked about a referring provider.
Do you have informational materials for patients and families?
Yes! Please contact us by phone at 617-714-7395 or by email at raregenomes@broadinstitute.org for copies of our materials.
Does the Rare Genomes Project work with other organizations?
Yes! We are interested in working with advocacy groups who support families who may benefit from our research. We are also interested in raising awareness of groups that help individuals and families with rare diseases access support, resources, and future research or treatment opportunities. If you are involved with either type of advocacy group, please reach out to us by email at raregenomes@broadinstitute.org, or by phone at 617-714-7395.
