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Empowering Informed Choices That Can Change Lives

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The COVID-19 pandemic has captured the attention of health officials and citizens worldwide. Since the end of 2019, we’ve seen how fast our lives can change and the impact this has on the individual, local and global level. The pandemic seems to have yielded one potential benefit; it has shone a harsh light on the significant gaps in health information systems that support innovative strategies to afford communities with the ability to make informed choices about their health – and equally, what we can do to facilitate greater efficiencies and accessibility to the technologies that enable this.

One such trend is the profound impact of genomics in medicine and public health, including precision medicine, disease diagnosis, oncology and reproductive health. In particular, genome sequencing is making significant impacts in stratifying cancer, characterizing genetic disease and personalized care, predicting anticipated treatment response and outcomes. These new genomic processes, and the continuing innovation in how they can be applied, demonstrate how powerful genetic testing can be at all levels of health.

While we have seen the advancements in DNA sequencing over the past decade, this is a new paradigm of patient treatment for healthcare professionals who may not be sufficiently prepared to interpret and translate the information from complex genetic testing. This information often can be very personal for the patient. It is essential they are provided with a thorough understanding of what is being tested, what genomics can reveal about their tumour, disease or health, and be supported in making informed choices before and after testing. For many patients who may not fully understand what genetic testing is or what it entails, their healthcare professionals must provide them with considered advice and explanations as to what results can mean to their care and treatment.

Ensuring healthcare professionals and researchers are armed with resources, knowledge, and support is critical. GPs are often the first contact for patients, including women who seek to understand their reproductive choices, children with developmental or intellectual delay and individuals who wish to better understand their risks to disease or look towards preventative management of their health. From an oncological perspective, too, probing the genetic material of a tumor can contribute to an individualized approach to treatment and enhanced understanding and monitoring of the patient. To this end, the multidisciplinary team involved with the clinical decision making, including individual practitioners and genetic counsellors, must be appropriately prepared to integrate genomic information into patient care.

Providing professionals with the relevant education and training required to meet the demands of the growth of genomics in health means a need to invest in clinicians and researchers who are improving the genetic literacy of people around the world. This involves looking at addressing the shortage of geneticists, genetic counsellors and clinicians available to interpret this data and translate and empower patients and healthcare providers with the full utility of genomic information.

Genomic-based healthcare is personal but relies on a global dialogue around standards and data accessibility. We support this dialogue by fostering collaborations and opportunities with research institutions, professional organizations, and the government to fully realize the medical potential of genomics. Ultimately, through investing in the genomics workforce and in our healthcare providers, we empower people to make informed choices about their lives.