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The digitisation of medical records is catalysing the use of AI in various sectors of healthcare, including clinical trials, precision medicine, and drug discovery, thereby supporting biotech and pharmaceutical companies in their quest for more efficient and personalised medical solutions. This blog post explores the transformative role of AI in fostering collaborations within and beyond these industries, highlighting its impact on drug discovery and the development of personalised medicines, while also addressing the challenges and ethical considerations involved.
As the new year unfolds, it's a time for reflection on some of the most inspirational stories in human genetics last year, and anticipation of what's to come in this area in 2024.
In the two decades since the first human genome sequencing, technological progress has unlocked an enormous collection of genetic data. This invaluable resource has deepened our understanding of DNA's role in diseases and the diverse genetic makeup among individuals. However, a significant caveat exists: a disproportionate amount of this data stems from individuals of European descent. As of 2021, over 86% of genomic data hails from this group, with East Asians contributing around 6%, Africans 1%, and all other demographics less than 1%. This skew in data collection limits the potential benefits of genomic research for underrepresented populations. And one issue at the heart of it is a lack of genomic literacy.
In today's increasingly interconnected global landscape, the ease of movement and migration has led to a significant rise in diversity within numerous countries. This diversity is characterised by distinct cultural backgrounds that considerably influence individuals' reactions to various healthcare services, including the progressively important field of genomic medicine. In this context, cultural competency becomes an essential skill for researchers and healthcare providers. It plays a pivotal role in bridging cultural differences, ensuring that high-quality care is delivered uniformly, transcending barriers of race, gender, or beliefs.
Health equity, defined as everyone having the opportunity to be as healthy as possible, has long been a primary goal of public health. Still, across the world, people don't have the same opportunities to see doctors, take part in research, or access medications and genetic testing. This disparity of care can affect rates of disease and disability – and most importantly, hinder quality and length of life.
Our new whitepaper "Inclusive genomics: A path to equitable precision medicine" offers a close look at the intersection of genomic research and diversity. It's an exploration of how embracing the full spectrum of human diversity is not just beneficial but essential for the advancement of precision medicine.
The 34th International Symposium on ALS/MND represented a pivotal moment in the ongoing fight against Amyotrophic Lateral Sclerosis (ALS). This year's event was especially significant, commemorating the 30th anniversary of the discovery of SOD1, the first monogenic cause of ALS, and showcasing the substantial progress made in understanding the genetic components of this complex disease.
As we step into a new era of medical innovation, it's crucial to shine a light on diseases that have long remained in the shadows. Amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease also known as motor neuron disease (MND), is one such condition that has challenged medical experts for decades. Today, we’re thrilled to share a beacon of hope in this challenging landscape: Sano’s launch of “Light the Way.”
Families affected by ALS urged to join free program to uncover their genetic risk, contribute to research, and access new therapies
- Sano Genetics launches ‘Light The Way’, offering peer support, DNA testing, genetic counseling and education to those diagnosed with or experiencing symptoms of ALS, and those at risk of genetic ALS due to their family history.
- Around one in five ALS cases are now thought to be genetic; 40+ genes have been linked to the disease thanks to new discoveries funded in part by the 2014 ALS ice bucket challenge.*
- Knowing their genetic risk could offer relief to many, while those who test positive may be able to access newly approved therapies, clinical trials and observational studies like Beacon, which charts the psychological impact of ALS genetic testing.
In the ever-evolving landscape of healthcare, precision medicine trials stand out as a beacon of personalised treatment, tailored to the unique genetic and environmental makeup of each individual. But the backbone of these trials isn't just cutting-edge technology or groundbreaking research; it's the patients. Engaging them effectively is both an art and a science. Here, we explore best practices for patient engagement in this dynamic field.