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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.
Here, we’ll explore the importance of genomic literacy, address the hurdles stemming from lack of awareness, and propose actionable steps for stakeholders to enhance education and diversify genomic research.
The significance of genomic literacy
Understanding genetics, known as genomic literacy, is increasingly vital in making informed health decisions. With the rise of direct-to-consumer genetic tests and the integration of genomics in healthcare, this knowledge becomes crucial. But despite the widespread availability of information through the internet, genomic literacy remains inadequate among the public. A recent survey completed by thousands of participants with secondary education indicated that only 1.2% of the sample answered all 18 basic genetic knowledge questions correctly. Another survey suggested that only half of individuals are aware of genetic testing, and approximately one-third are aware that genetic testing can contribute to disease treatment. This knowledge gap means patients are left not understanding how genetics impacts their health – and many healthcare providers are not equipped for genomics discussions. The gap also contributes to significant disparities in both research participation and access to precision medicine, especially among minority populations.
Genomics plays a pivotal role in healthcare, necessitating education for both patients and healthcare providers. Inclusive genomic education offers a multitude of benefits:
- It enables the public to leverage recent genomic innovations in medical applications.
- It encourages proactive engagement in genomic behaviours like genetic testing and sequencing, enhancing the available data, particularly from underrepresented groups. It broadens our understanding of human history, biology, and health disparities while uncovering clinically significant insights.
- Diverse genomic research helps prevent exacerbating health disparities by discovering insights that benefit various populations equitably.
- Empowers patients to comprehend their health, hereditary conditions, and predispositions, fostering the development of personalised medicines.
Embracing diversity in genomic research not only enriches our understanding of genetics but also fosters discoveries crucial for advancing personalised medicine and addressing health disparities across diverse populations.
Efforts to promote genomic education
In the dynamic landscape of advancing healthcare through genomics, numerous global initiatives and organisations are actively engaged in promoting genomic education, employing diverse strategies to equip healthcare professionals and the public with essential knowledge and skills.
For example, in support of the UK's 100,000 Genomes Project, Health Education England's Genomics Education Programme has curated a robust suite of resources. This comprehensive collection includes a three-week Massive Open Online Course (MOOC) centred on whole genome sequencing. The primary aim is to equip both existing and future NHS professionals with the necessary skills to effectively leverage genomic medicine for patient welfare. Notably, these resources, designed initially for healthcare professionals, are freely accessible to the wider public.
Beyond the UK's borders, other international entities are also actively contributing to genomic education. For instance, the World Health Organization hosts a dedicated genomic resource centre featuring a specialised section focused on online resources tailored specifically for patients and the general public. Additionally, the National Human Genome Research Institute (NHGRI-NIH) presents a wealth of primarily US-centric resources, while the Garvan Institute of Medical Research in Australia offers an array of links to informative videos, blogs, leaflets, and factsheets from various providers.
The advocacy for genomic education extends across various sectors, encompassing governmental, non-governmental, and international organisations. Their collective efforts span integrating genomic topics into formal educational frameworks, funding educational institutions, and establishing specialised training programs for professionals in this burgeoning field. These initiatives, along with the promotion of national genomics projects, play a pivotal role in not only fostering public awareness but also significantly improving genomic literacy levels.
Conclusion
As the field of genomics continues to grow, the imperative of genomic literacy becomes increasingly apparent. The observed improvement in genetic literacy over the past decade, as evidenced by increased familiarity with genetic terms and knowledge, shows the positive impact of current initiatives. However, the disparity in data representation and continued inadequate awareness underscores the pressing need for inclusive education in genetics. This call extends beyond healthcare professionals to empower individuals in understanding their genetic makeup and its impact on health. The strides made in promoting genomic literacy, both nationally and globally, exemplify a concerted effort towards equitable access to knowledge. Valuing diversity in research and education is key to unlocking genomics' huge potential, empowering people with knowledge, and driving fair progress in healthcare for everyone.
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