Celebrating International DNA Day: Incredible Strides in Jewish Genetic Disease Screening

by Josh Forman, Head of Science, Education & Outreach

Every 25th April, we celebrate World DNA Day, highlighting the discovery of the double helix structure of DNA in 1953 and the completion of the Human Genome Project in 2003. This day not only marks significant milestones in our understanding of genetics, it also emphasises the remarkable progress that has been made in harnessing this knowledge for the betterment of human health.

Here at Jnetics, we are particularly aware of the profound impacts of these advances in relation Jewish genetic diseases. These diseases, which affect individuals of Jewish ancestry with a much higher prevalence than in the wider population, are often inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the same gene for their child to be affected. Historically, these diseases have presented significant challenges to affected families and communities, but advancements in genetic screening and testing have transformed the landscape.

Thanks to ongoing research and technological advancements, genetic screening for Jewish genetic diseases has become increasingly comprehensive and accessible. Today, we can undergo carrier screening to identify whether they carry mutations associated with conditions such as Tay-Sachs disease, cystic fibrosis, familial dysautonomia, and more. Armed with this information, individuals can make informed decisions about family planning and take proactive steps to prevent the transmission of these diseases to future generations.

One of the most remarkable developments in recent years is the advent of expanded carrier screening panels. We started by screening for 9 diseases, we now screen for 47! These panels utilise advanced genetic sequencing technologies to simultaneously screen for [potentially] hundreds of genetic diseases. By casting a wider net, we can offer a more comprehensive assessment of an individual’s carrier status, empowering you with valuable insights into their genetic health. Panels can screen for hundreds of disease alleles at once. Our screenings are focused on those most prevalent in the Jewish community and are life shortening.

Genetic screening isn’t the only part of this world to have made incredible advancements. Downstream options for carrier couples (when both partners carry the same genetic disease allele) are also taking huge strides forward. One of the main pathways open to carrier couples is preimplantation genetic testing (PGT), which has revolutionised assisted reproductive technologies. Through in vitro fertilization (IVF) procedures, embryos can be screened for specific genetic mutations before being implanted in the uterus, greatly reducing the likelihood of passing on inherited diseases.

The research is an ongoing process. Genetic research continues to uncover new insights into the underlying causes of Jewish genetic diseases and potential avenues for treatment and prevention. Gene therapy, for example, holds promise as a revolutionary approach to treating genetic disorders by delivering functional copies of defective genes to affected cells.

Beyond the realm of medical science, advancements in genetics have also sparked important conversations surrounding ethical considerations, privacy concerns, and cultural sensitivities. As genetic testing becomes more widespread, ensuring equitable access to screening services and safeguarding individual privacy rights are paramount. We do this with our Jewish values and ideals firmly in the forefront of our mind. It is widely accepted that saving a life is the most important thing that can be done, and armed with the ability to alleviate and avoid these life-threatening diseases is of the utmost importance.

World DNA Day serves as a positive and forward-thinking reminder of the transformative power of genetics in shaping the future of healthcare. By leveraging our understanding of DNA and genetic inheritance, we can empower individuals and families with the knowledge they need to make informed decisions about their health and the health of future generations. As we celebrate the progress we’ve made, let us also reaffirm our commitment to advancing genetic research, promoting genetic literacy, and ensuring that the benefits of these advancements are accessible to all. Together, we can continue to unlock the potential of genetics to improve lives and build healthier communities.