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In terms of identifying and supporting at-risk populations, genomics has multiple potential applications in frontline healthcare. While confirmation of an underlying genetic factor can’t currently change patient outcomes, it’s hoped that collecting genomic data will enable families to quickly identify members at increased risk, and ultimately accelerate the development of potential new drug targets and personalised treatment journeys.
For example, newborn screening initiatives such as the Newborn Screening programme in the UK, which checks for risk of nine serious health conditions including sickle cell disease and cystic fibrosis, have already been rolled out on a national scale. And beyond newborn screening, early detection and prevention measures have evolved to include various genetic and genomic tests that can identify a predisposition to a range of diseases.
Newborn screening
There are currently a number of programmes being trialled around the globe which are investigating the benefits and viability of more comprehensive genome sequencing at birth, including:
- The Early Check programme: A volunteer programme in North Carolina which offers additional free screening for around 200 serious health conditions in newborn babies. Catch the programme lead, Holly Peay, in conversation with our CEO, Dr Patrick Short, on The Genetics Podcast.
- Generation Study: A UK National Health Service (NHS) project, this £105 million ($126 million) programme aims to expand the existing newborn screening programme to check for approximately 200 rare but treatable genetic conditions. By screening approximately 1 in 12 babies born in England over the next two years, it aims to uncover insights that can inform policymakers and make screening more commonplace.
- The GUARDIAN Study: A New York-based research study that screens newborns for over 450 genetic conditions not currently screened as part of standard newborn screening. The programme is currently available to families of babies born in NewYork-Presbyterian Hospitals. We spoke to programme leader Dr Wendy Chung on The Genetics Podcast earlier this year.
More comprehensive newborn screening has the potential to not only identify children at risk of specific health conditions early on, but to enable families and healthcare providers to take simple, effective steps to prevent disease from developing.
Beyond newborn screening: Identifying high-risk individuals to drive preventive action
Outside the context of newborn screening, genomic sequencing has high-impact applications for identifying high-risk individuals, enabling preventative actions, and powering the future of drug development.
Benefits for minority populations
Whole Genome Sequencing (WGS) can be used as a tool to identify at-risk individuals within demographics known to be at a statistically increased risk of specific genetic conditions.
For example, NHS England is currently collaborating with Jnetics and Chai Cancer Care to offer genetic screening of the BRCA gene to people of Jewish ancestry. People of Jewish ancestry are six times more likely than average to carry a genetic variant that can increase their risk of developing some cancers. Because of this, tens of thousands of people living in England are now eligible to receive free genetic testing through a new programme launched in February 2024. The project aims to identify thousands of people carrying mutations in the BRCA genes, so patients can seek early access to surveillance and prevention services.
This free testing programme is part of the NHS’s major drive to catch tumours early so that they are easier to treat. People with at least one Jewish grandparent, and who reside in England, are eligible to receive a free, at-home genetic test.
Population-wide testing can therefore benefit minority groups and communities and help start to address the historic and ongoing disparity in available genomic data, which remains highly skewed toward white European populations.
The power of polygenic risk scores (PRS)
Genomic data can also be used to generate a polygenic risk score (PRS) - which aggregate the effects of numerous genetic variants to predict an individual's likelihood of developing a disease.
There is a powerful argument that generating a PRS for patients known to have an increased risk or family history of a specific condition could significantly move the needle on precision medicine development, enabling the personalisation of treatment journeys and improving patient outcomes. PRS can also help identify people at higher risk of common conditions such as heart disease, diabetes, liver disease, and some forms of cancer. Generating PRS for these types of conditions could also help significantly reduce the burden on healthcare systems as, for example, heart disease and cancer accounted for nearly 40% of deaths in the United States in 2022. If PRS can furnish patients with the knowledge they need to take effective preventative actions, there is the potential to not only significantly reduce patient deaths, but also reduce the burden on already stressed healthcare services.
For example, Sano Genetics is collaborating with Predictive Health Intelligence and Somerset NHS Foundation Trust to launch a new programme funded by Innovate UK that aims to power early intervention in non-alcoholic fatty liver disease (NAFLD). Nine out of 10 cases of NAFLD could be prevented or effectively treated if caught early enough. That’s why the programme is leveraging the existing databases to identify people at risk of liver disease based on their PRS. The aim is to educate these patients early and provide treatment or clinical trial opportunities to help slow down or prevent disease progression – while also gathering the data needed to chart a map to better liver health.
Familial connections
Genetic testing can significantly improve outcomes for families at risk of genetic conditions by providing essential insights that help in early detection and personalised care. By pinpointing specific genetic mutations, doctors can tailor treatments and preventive measures to better manage or even delay the onset of certain diseases. This information is also invaluable for family planning, helping parents make informed decisions to reduce the risk of passing on genetic disorders to their children. In many instances, genetic testing offers families clarity and peace of mind, enabling them to take proactive steps towards better health and well-being.
For example, Light the Way is a new research project led by Sano Genetics and funded by Innovate UK. Light the Way is offering free at-home genetic testing to people in the USA and UK who are living with genetic amyotrophic lateral sclerosis (ALS) (also known as motor neurone disease), ALS symptoms, or a family history of the condition. Light the Way fast-tracks ALS research by connecting patients and their families with research opportunities. In this case, the importance of these diagnoses cannot be understated: every second counts in a race against an 18-29 month prognosis.
The integration of genomics into frontline healthcare holds immense promise for improving patient outcomes and advancing medical knowledge. Even from the start of life, genetic testing programs for high-risk populations enable early detection and personalised care. They empower families and healthcare providers to take proactive steps in preventing and managing genetic conditions. And, they play an important role in accelerating drug development and tailoring treatment plans. For more, download our whitepaper, "Genomic insights into at-risk populations: Strategies for early detection and prevention," below.
