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SDS & Science Snapshots (2024-04-06)

In this issue: What are experts saying about the importance of genetic testing in individuals with bone marrow failure?

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

The Importance of Germline Genetic Testing for Patients with Bone Marrow Failure and Related Disorders

Between March 21-22, 2024, the Aplastic Anemia and Myelodysplastic Syndrome International Foundation (AAMDSIF) hosted the 9th International Bone Marrow Failure Disease Scientific Symposium in Bethesda, MD, USA. This meeting brought together experts from around the world to discuss the latest advances in both the science and patient care for these disorders. The first session at the Scientific Symposium highlighted the role of genetic testing for persons with bone marrow failure, and led to a lively discussion on when, whom, and what genetic testing should be offered.

We reached out to Dr. Lisa J. McReynolds, a leading physician-scientist studying inherited bone marrow failure syndromes (including Shwachman-Diamond Syndrome!) and the first speaker at this Scientific Symposium, to bring you an exclusive summary of their thoughts on the importance of genetic testing for individuals with bone marrow failure.

Here is what they shared:

Shwachman-Diamond Syndrome (SDS) is part of a group of disorders that are often collectively called “inherited bone marrow failure syndromes (IBMFS).” This is because what unites all IBMFS is that they can be genetic (or inherited, passed from parent to child in the genes) and can cause a person’s bone marrow to “fail”, stop working, or malfunction. It can be very difficult to sort out which form of bone marrow failure a person has. This problem is made worse by the fact that other disorders that are not genetic can look a lot like an IBMFS. Two of these disorders are aplastic anemia (AA) and myelodysplastic syndrome (MDS). AA is caused by an immune attack on the person’s bone marrow leading to it to not function. MDS is a form of blood cancer that under the microscope can look like an IBMFS.

There are some laboratory tests that can help sort out IBMFS (and which specific type) versus AA versus MDS, but they can be insufficient to get a final diagnosis. One of the best tools healthcare providers have to reach an accurate diagnosis is genetic testing.

This SDS & Science Snapshot published last fall helps explain the role of genes in developing diseases such as AA or MDS and the difference between somatic and germline mutations. Additionally, the SDS Science Spotlight YouTube video below also explains how individuals with SDS are at-risk of developing bone marrow failure or leukemia and how this relates to the genetics of SDS.

So, why should people with bone marrow failure, such as individuals with SDS, have genetic testing? 

  1. The signs of a genetic disorder can be subtle or absent when a person comes to the attention of a healthcare provider, and there is often no family history of a genetic disease. 

  2. About 5% of all patients with bone marrow failure have a genetic reason for their disease. This number is critical since many professional societies recommend genetic testing for diseases with a greater than 5% chance of being genetic.

  3. Uncovering a genetic cause for the person with bone marrow failure can lead to changes in treatment planning and screening recommendations moving forward.

  4. Genetic testing results may also change who is chosen as a donor if the person plans to have a bone marrow transplant. 

  5. Genetic testing results can also help guide potential genetic testing of other family members. 

There are several different types of genetic testing that can be done for SDS and other bone marrow failure diseases, such as panel testing or exome sequencing (this SDS & Science Snapshot published a few weeks ago reviews genetic testing for SDS in more detail). The choice of testing is best determined by your genetic counselor and physician. However, getting genetic testing can be challenging for some patients. One of the biggest challenges many patients face is insurance coverage. Many insurance companies do not cover the testing and if it is covered it can be insufficient or come with large out-of-pocket costs. This has unfortunately led to inequities across our bone marrow failure community with some patients being able to access genetic testing and others not. Healthcare providers need to advocate for all bone marrow failure patients to receive genetic testing as recommended.

To help address these inequities, Shwachman-Diamond Syndrome Alliance is committed to increasing access to no-cost clinical genetic testing for individuals suspected of having SDS and providing opportunities to participate in research for those with previous negative or uninformative genetic testing results. 

Stay tuned to our SDS & Science Snapshot series this Spring to learn more about genetic testing resources that may be helpful for your family! Or, reach out to us directly via email at We are here to help!


The team at SDS Alliance would like to extend a warm message of appreciation to Dr. Lisa J. McReynolds for their contributions to this SDS & Science Snapshot and, more importantly, for leading critical research efforts for individuals with IBMFS such as SDS!


AAMDSIF Resources: 

The AAMDSIF has published several Patient Guides and Fact Sheets (available in multiple languages including Italian, French, German, Spanish, and Portuguese!) for understanding acute myeloid leukemia (AML), MDS, and AA on their website!

These toolkits published by AAMDSIF answer some of your most important questions about Aplastic Anemia and Myelodysplastic Syndrome!

AAMDSIF also hosts Patient and Family Conferences for individuals who have been diagnosed with and/or survived AA, MDS, AML - visit their website for a list of these events happening this year across the United States in Los Angeles, Seattle, Philadelphia, Chicago, and Tampa.


Disclaimer: The views and opinions expressed in this SDS & Science Snapshot only reflect those of Lisa J. McReynolds, MD, PhD.


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