Genetic screening has advanced rapidly over the past two decades. Sequencing is faster and far less expensive, and the ability to interpret genetic variants continues to improve. Despite these advances, screening is still not widely integrated into everyday care.
On the latest episode of The Genetics Podcast, Matthew Goldstein, CEO of jscreen, joined us to discuss why that gap persists and why expanding access to genetic screening remains an important priority for medicine.
Matthew came to this work through both professional experience and personal loss. After losing his daughter to Tay-Sachs disease following an error in carrier screening, he shifted his focus toward improving access to reliable genetic testing and helping families understand their genetic risks earlier.
The conversation highlights how screening can support prevention, reproductive planning, and earlier intervention, and why the main barriers today are less about technology and more about implementation.
Carrier screening identifies individuals who carry recessive variants associated with inherited diseases. If both partners carry the same condition, there is a risk that their children could be affected. When families have that information early, they have time to consider a range of reproductive options and to plan with greater clarity.
In practice, screening often happens after pregnancy has already begun. A typical scenario involves testing during the first obstetric visit, which may occur around eight weeks into pregnancy. Results and follow-up testing for the partner can take additional weeks, which can delay the moment when families receive meaningful information.
Matthew emphasized that screening is far more useful when it happens before pregnancy. Preconception testing allows couples to learn about genetic risks earlier and consider next steps without the time pressure that often accompanies prenatal testing.
This shift in timing reflects a broader change in how genetics can be used. Instead of reacting to disease, screening can support informed decisions earlier in the care journey.
From a scientific perspective, genetic screening is more feasible than ever. Whole genome sequencing can now be performed in hours and analyzed quickly using increasingly sophisticated computational tools. Advances in artificial intelligence are accelerating variant interpretation, and research is expanding the role of genetics in predicting risk for common diseases.
Even with these developments, screening remains underused. Matthew described the challenge as an implementation gap. Clinicians may not be familiar with available tests or may not know when to order them. Patients may not realize that screening is available before pregnancy or outside specialized clinics. Coverage policies and billing structures also create friction that slows adoption.
Together, these factors limit the reach of a tool that could otherwise support prevention and earlier diagnosis across multiple areas of medicine.
The value of genetic screening extends beyond rare disease. Carrier screening can help families understand reproductive risks. Hereditary cancer testing can identify individuals who may benefit from earlier surveillance or preventive surgery. Screening for inherited cardiovascular conditions can guide monitoring and treatment before symptoms appear.
In each of these cases, genetic information enables earlier action. For clinicians and researchers working in precision medicine, this is an important shift. It can identify risk and shape care strategies before serious health problems develop.
The episode also explored how genetic screening becomes widely adopted. Matthew pointed to the example of Tay-Sachs screening in the Jewish community. Beginning in the 1970s, community leaders and health advocates promoted screening programs and education efforts. Over time, screening became widely accepted as part of reproductive planning.
These efforts reduced the incidence of Tay-Sachs disease in the Ashkenazi Jewish population by more than 95%. The experience shows how education and community support can normalize preventive screening. Conversations within families, guidance from trusted community leaders, and shared awareness of genetic risk all contribute to broader participation.
This type of engagement is particularly important in genetics, where results can raise complex emotional and medical questions. Support from clinicians, counselors, and community networks helps individuals process the information and decide what steps to take.
jscreen was created to address practical barriers that prevent people from accessing genetic testing. Founded at Emory University, the nonprofit combines at-home testing with telehealth-based genetic counseling. Individuals can order testing remotely, complete the sample collection at home, and speak with genetic counselors to understand the results.
The model focuses on accessibility and education while keeping costs lower than many commercial testing options. As a nonprofit, jscreen can also use philanthropic support to help subsidize testing for individuals who may not otherwise have access.
Matthew sees this type of infrastructure as essential for expanding genetic screening. Scientific capability alone does not guarantee adoption. People need testing options that are straightforward to access and supported by clear guidance.
Genetic screening already provides actionable information across reproductive health, oncology, and inherited disease risk. As sequencing technology improves and awareness grows, screening will likely play a larger role in preventive care.
The discussion with Matthew highlights a central challenge for the field. The science behind genetic screening has advanced quickly, while the systems needed to deliver it to patients have developed more slowly. Addressing that gap requires education, accessible testing programs, and healthcare systems that incorporate genetics into routine care.
Screening will not replace other forms of prevention, but it adds an important layer of insight into inherited risk. When used early and supported by appropriate counseling, it can help individuals and families make more informed decisions about their health and future.
Listen to the full episode below.