Genetic screening has become a popular tool for helping people better understand their genetic profile.  For those with a family history of illness, this knowledge can offer peace of mind, clarity, or a greater sense of preparedness.  For the Jewish population, genetic carrier screening carries even more weight.  Genetic mutations are more common in individuals of Ashkenazi Jewish descent, and these mutations can influence health considerations later in life or during pregnancy.

Some genetic variations linked to higher health risks, like BRCA mutations, are much more common in the Ashkenazi Jewish population than in the general population.  By undergoing genetic screening, one can determine whether they carry a genetic mutation and take the necessary steps for their own health and that of their family.  That’s why genetic screening has become a meaningful part of the family planning process for many Jewish couples, whether or not both prospective parents are ethnically Jewish.

It’s important to note that genetic testing doesn’t predict what will happen or provide definitive answers about future health.  Instead, it offers greater awareness of one’s risk levels, providing another layer of awareness beyond family history, lifestyle, and environment.  It can also provide important information to couples trying to get pregnant.  For example, if both parents carry the same genetic mutation, this knowledge can guide them toward informed family-planning decisions to help prevent passing the mutation to their children.

“Knowledge is power,” says Dr. Matt Goldstein, CEO of jscreen.org, a national non-profit public health initiative dedicated to genetic testing and preventative care.  “Genetic testing is a vital step toward preventing devastating diseases and ensuring healthier generations.”

Photo Caption: As the CEO of jscreen.org, Dr. Matt Goldstein, MD, PhD, focuses on providing accessible genetic testing to empower individuals with critical, potentially life-saving health insights.

For Dr. Goldstein, promoting awareness of genetic screening is a deeply personal cause.  In 2021, he and his wife, Myra, lost their daughter, Havi, to Tay-Sachs disease—a rare genetic disorder that primarily affects infants and young children.  It is also significantly more common in the Ashkenazi Jewish population, a heritage shared by both Dr. Goldstein and his wife.

“Losing Havi to Tay-Sachs shattered our world; no family should ever have to endure this kind of loss,” says Dr. Goldstein.  “Our mission at jscreen is to ensure that families are equipped with the tools and knowledge to make informed decisions about their genetic health, so they can avoid similar tragedies.”

Luckily, several options exist for individuals to access affordable, at-home genetic testing kits.  Individuals and couples can order a testing kit online, choosing between either a reproductive carrier screen or a hereditary cancer test.  A reproductive carrier screen will evaluate hundreds of genetic conditions that are prevalent in Jewish and other communities, while a hereditary cancer test identifies genetic mutations commonly associated with different types of cancer.

Whichever test one orders, they’ll receive a simple saliva swab test in the mail that they can ship back to receive results within a few weeks.  Once the results are in, they’ll be put in touch with a professional genetic counselor to go over the findings and determine next steps.  For some, this may involve family-planning considerations; for others, it can offer reassurance, encourage lifestyle changes, or inform other healthcare decisions with one’s doctor.

The decision to undergo genetic screening is one of many proactive healthcare choices one can make.  For the Jewish population, genetic testing has been a powerful tool to enable informed decision-making and family planning.  With guidance from a professional genetic counselor, anyone can gain a clearer understanding of their genetic profile and take the necessary steps to protect their health.

This article was written in cooperation with Tom White