In this issue: New research genetic testing opportunity for individuals suspected to have SDS!
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SDS Alliance Announces Collaboration with Rare Genomes Project
Timely and accurate diagnosis of Shwachman-Diamond Syndrome (SDS) is critical for patients to access optimal care, education, and community support. We are excited to announce our new collaboration with the Rare Genomes Project (RGP) at the Broad Institute of MIT and Harvard. The RGP is a free and remote research program using genomic sequencing to look for the genetic cause of rare diseases, such as SDS. Eligible families will be asked to provide a blood sample and medical information. If a result is found, the RGP team will work with your doctor to confirm the result.
What is the purpose of this study?
The Rare Genomes Project is a research study focused on patients and families with rare and genetically undiagnosed conditions, now including those suspected to have SDS. The RGP uses genomic sequencing to search for the cause of rare disease in these families and hopes to accelerate the rate of rare disease diagnosis in the process.
How is the genetic sequencing done?
What is particularly exciting about this project is that it uses Whole Genome Sequencing (WGS), sequencing the entire genome, not "just" the coding sequences called as genes (as in Whole Exome Sequencing (WES)) but also everything in between. Are you curious how WGS is done? Check out this short video overview, below. For more details about the difference between WGS and WES, check out this video.
Who is eligible to participate in our new collaboration?
Those who have a clinical suspicion for SDS, including a history of two or more of the symptoms listed below. (“A history of'' means that these symptoms may have happened in the past and resolved by the time participation in the RGP is considered.)
Exocrine pancreatic insufficiency (EPI): Decreased pancreatic enzymes (serum trypsinogen or pancreatic isoamylase), decreased fecal elastase, malabsorption, or steatorrhea
Hematologic abnormalities: Cytopenias including neutropenia, hypocellular bone marrow, bone marrow failure, or MDS/AML
Skeletal dysplasia: Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density
Individuals with a suspected genetic cause that has not been identified due to prior testing being negative or inconclusive OR a lack of access to genetic testing. (This means that patients who have received genetic testing previously ARE eligible to participate, as long as prior testing has not yielded a diagnosis.)
Applicants for the RGP must live in the United States.
How do I get involved?
Participation is initiated by eligible patients and families by completing an online application which asks questions about personal and family medical history. The RGP research team will review your application to determine eligibility - this application review process may include a request for additional medical records. Eligible families will also be invited to participate in a virtual introductory meeting to meet the RGP team and discuss participation details such as submitting a blood sample. For more information, you can watch the video below or visit this webpage on the RGP website.
Will I receive genetic testing results?
The goal of the RGP-SDSA collaboration is to find the genetic explanation for SDS in each family who enrolls, but the RGP cannot guarantee that they will have a result for each family. Because this is research-based genetic testing, the process is expected to take longer than routine genetic testing. If the RGP finds a genetic variant(s) that may explain SDS in the family member with the condition, the RGP team will work with affected individuals to clinically confirm and return the results. The RGP does not return results to unaffected family members.
How will I receive genetic testing results?
If the RGP finds results that they believe explains the underlying cause of SDS present in your family, they will contact you and ask if you would like to have the findings clinically confirmed in a CLIA-certified laboratory. A genetic counselor on the RGP staff will work with a doctor of your choice to order testing through the CLIA-certified lab. The doctor who orders the clinical test will be the one who shares the results with you.
If this project sounds like it could benefit you or a loved one, we encourage you to fill out an application on the RGP website.
More resources
The SDS Alliance team is available for guidance at connect@SDSAlliance.org.
At SDS Alliance, we have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are.
This page is dedicated to the SDSA partnership with the Rare Genomes Project to provide access to whole-genome sequencing on a research basis to US residents.
If this program doesn't work for you, please check out our other resources or email us at connect@SDSAlliance.org.
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