By Carol Guzman

August marks Spinal Muscular Atrophy (SMA) Awareness month, which aims to increase awareness and advocacy efforts for the rare genetic disorder. SMA affects the nerves in the spine that control the muscles for breathing, swallowing, and limb movement. The disorder causes these neurons to degrade, resulting in a child having weak muscles and loss of muscle control. SMA occurs in approximately 1 in 800 live births. The disorder is inherited in the autosomal recessive fashion, meaning if both parents are carriers for SMA, each of their children has a 25% likelihood of having SMA, a 50% chance of carrying the SMA-causing mutation without health effects, and a 25% chance of not carrying the mutation at all. SMA is one of the most common inherited causes of childhood mortality, second only to cystic fibrosis. Fortunately, screening and treatment options for this devastating disorder are available.

In 2017, The American College of Obstetricians and Gynecologists (ACOG) recommended that all women considering pregnancy or currently pregnant be offered screening for SMA, along with cystic fibrosis, and hemoglobin-related disease. While the three recommended diseases are Jewish genetic disorders because of their high carrier frequencies within the Jewish population, the diseases still have relatively high carrier frequencies in the general population. For SMA specifically, the carrier frequency in the Ashkenazi Jewish population is 1 in 62, while in the general population the carrier frequency is 1 in 49. 

There are various SMA types, each with its own characteristics and symptoms:

• Type I is the most severe form of SMA and can cause death from respiratory failure within 2 years.
• Type II is less severe; patients with this type of SMA can lived up to their mid-20s.
• Type III exhibits symptoms after 18 months
• Type IV shows symptoms in adulthood

There are now treatment options for SMA, which was once considered an incurable disease. However, the earlier an infant is diagnosed with SMA, the earlier they can receive treatment to prevent and delay motor neuron degeneration. Carrier screening before pregnancy allows partners to identify whether their future child will inherit an early onset recessive disorder. ACOG recommends that individuals of Ashkenazic ancestry should be screened for additional diseases, including Canavan disease, Familial Dysautonomia, and Tay-Sachs. However, there are many more diseases people of Ashkenazi descent, including those in an interfaith partnership, should consider being screened for even though they are less common in the global population.

Consider talking to your health care provider or a genetic counselor about carrier screening before family planning. In addition, join us on Oct. 6 for Decoding Genetic Tests for Parents to Be, a program that will focus on all the genetic tests offered pre and postnatally.

To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit Jewishgenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org

Additional Resources: 

1. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine (nature.com)

From Ariana: 

I am delighted to be joining the Sarnoff Center for Jewish Genetics as a Community Health Educator!  I am originally from New York City and later moved to Buffalo, NY where I studied psychology and counseling services at SUNY-Buffalo.  Upon completion of my BA, I relocated to Chicago to pursue a Master of Public Health with a concentration in Community Health Sciences-Maternal and Child Health.  In the past, I aided in projects that ranged across a variety of topics, such as prenatal substance exposure, intimate partner violence, implementation science, and LGBTQ student health. I am thrilled to be able to apply my interdisciplinary background in the Chicagoland Jewish community, which has become my “home away from home.”  Aside from my professional endeavors, I love to read, listen to podcasts, try new restaurants, travel abroad, and spend time with family and friends. 

Please reach out to me at 312-357-4717 or ArianaRoman@juf.org. 

By Lilli Arbetter

As I wrap up my time with the Sarnoff Center, I have been reflecting on my internship experience. Through conducting research, learning from team members, and engaging in community outreach, I gained a new perspective on the types of genetic disorders that are particular to the Jewish population. I learned about conditions, such as Tay-Sachs disease, Gaucher’s disease, and Cystic Fibrosis, that can have a significant impact on Jewish families. More than anything, I learned about the great services that the Sarnoff Center offers these families, through education and genetic counseling, to provide hope and guidance.   

Before joining the Sarnoff Center as their Lewis Summer Intern, my knowledge of Jewish recessive disorders and hereditary cancers was limited.  However, throughout the summer, I learned a lot about Jewish genetics. The culmination of this work was a presentation that I gave last week to my fellow interns, informing them about Jewish genetics and the Sarnoff Center, with hopes that this will provide increasing recognition of these topics and the services available to guide families through challenging decisions.    

Prior to my presentation, I conducted a pre-survey in which most participants indicated that they had some or no knowledge on topics such as Jewish genetic disorders, BRCA mutations, and the Norton & Elaine Sarnoff Center for Jewish Genetics. After my presentation, I sent out a post-survey in which participants indicated that they experienced increased knowledge about Jewish genetics and would likely recommend the Sarnoff Center to friends and family. It was fulfilling to know that I was able to spread this important information and see the impact my sharing of knowledge had on my fellow interns.   

A part of my internship that I want to highlight is the research I conducted to find grant opportunities for the Sarnoff Center. I worked on this with Sabrina Scheinberg, the Lewis Summer Intern working in the JUF’s Planning and Allocations department. From this project, I expanded on my research skills and gained knowledge and appreciation for the inner workings of nonprofits.   

Further, I had the opportunity to reach out to local synagogues in the Chicago region and inquire about their participation in our High Holiday outreach program, which includes gift bags and informational pamphlets to be distributed to congregants. Through emailing the synagogues and being one of the contact points for the outreach, I had the ability to work on my communication and organizational skills. I learned the importance of informing the community about the services that the Sarnoff Center offers to make as many people as possible aware of these valuable resources available to them.  

I am so grateful to the wonderful Sarnoff Center team for the opportunities and connections they provided me this summer and the knowledge I have gained.  As I move forward with my sophomore year of college, I look forward to building on this newfound knowledge as I pursue a career in healthcare.  I know this summer experience will serve me well in my future professional endeavors. 

By Lilli Arbetter

Jewish genetic testing originated about 30 years ago with a successful carrier screening program for Tay-Sachs disease. As a result, there has been a significant drop in the prevalence of this disease amongst the Jewish population and, interestingly, most children born with Tay-Sachs disease today have non-Jewish parents. However, although there are fewer babies born with Tay-Sachs today, the carrier frequency rates have not changed. The need for genetic testing ultimately remains the same and is crucial to improving society’s overall health and wellbeing and, in particular, Jewish people. Since the development of testing, the panel for Jewish genetic diseases continues to increase in the number of conditions for which one can be screened, ultimately helping to reduce rates of other harmful diseases.

Although our DNA does not change, technology does. Our capacity for genetic testing has advanced from simple genotyping, which determines the genetic variants that an individual possesses, to genetic sequencing, which examines the exact order of DNA base pairs. In simpler terms, genotyping highlights specific spelling errors in a sentence, while genetic sequencing checks the whole sentence for mistakes, including grammar and spelling. As the capacity for genetic testing has increased (indicated in the increased detection rate from 90% to 99%), a large number of genetic conditions have been added to the panel.

Our genetic counselor, Melissa Ramos, offers a piece of advice:

"Similar to other genetic tests, technology continues to improve, and we are learning more about genetic conditions every day. It's the same for carrier screening. It's no longer the "one and done" type of test that it used to be."

This does not mean that you must get tested prior to each pregnancy. However, recognizing changes in family health history and keeping up to date with available options for pregnancy, especially if you are a carrier, is extremely important. By simply checking in with your OBGYN or doctor to discuss any changes/additions to the panel, you are maximizing your options when it comes to having a healthy pregnancy.

If you are considering getting screened, I recommend that you consider our carrier screening program. The Sarnoff Center offers an online, on-demand carrier screening program that you can complete from the comfort of your own home. Here is the link to the registration page and if you have any further questions, please contact Carol Guzman at 312-444-2847: jewishgenetics.org/get-screened

Resources: 

• Genotyping vs. Sequencing: What’s the Difference? | Orig3n
• Carrier screening in individuals of Ashkenazi Jewish descent (nih.gov)
• Expanded Newborn Screening: Information and Resources for the Family Physician - American Family Physician (aafp.org)