Artificial intelligence in genetic services delivery: Utopia or apocalypse?

Abstract

Artificial intelligence (AI) technologies have a long history, with increasing presence and potential in society and medicine. Much of the medical literature is highly optimistic about AI and machine learning, but fears also exist that healthcare professionals will be replaced by machines. AI remains mysterious for many practitioners, so this paper aims to unwind both hype and fear related to the technology for genetics professionals. After an historical introduction to AI in understandable and practical terms, we review its limitations. Building upon this foundation, we discuss current AI applications in medicine, including genomics and genetic counseling, offering grounded ideas about the impact and role of AI in genetic counseling and delivery of genetic services. Since AI is already being used in genomics today, now is the time to fundamentally understand what it is, how it is being used, what its limitations are, and how it will continue to be integrated into genetics as we look ahead.

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

“…Kearney et al [56] describe the current applications of AI in genomics and genetic counseling and the potential for continued and increased integration of AI in genetics. Medical genetic testing is one of the major applications of machine learning and deep learning in genomics.…”

Chatbots & artificial intelligence to scale genetic information delivery

“…This is still widely used in medical genetics (e.g., in pedigree analysis and cancer risk modeling programs). Machine learning AI systems, however, are modeled based on large datasets and do not require as much human expertise on the interpretation of outputs (Kearney et al., 2020). Machine learning can be used to develop algorithms for genetic diagnostic testing (e.g., mapping a patient's family history against current guidelines for cancer risk assessment and genetic testing).…”

Digitalizáció szerepe a genetikai vizsgálatokban: döntéstámogató rendszer fejlesztése a hazai genetikai tanácsadás segítésére

“…Az orvoslásban eddig alkalmazott mesterséges intelligencia korlátozott, strukturált és eredményesen használható, ahogy azt az orvosi szakirodalom is optimista módon írja le, bár mindig felvetődik egy kérdés, hogy hol a határ az egészségügyi ellátás dehumanizációja során [15,17,18]? Ha egy szakember ül szemben és beszélget a pácienssel, akkor az az érzelmi vetületét is érzékeli a tanácsadásnak, látja a fájdalmat, aggodalmat és kétségbeesést esetleg az elégedettséget is a páciensek részéről.…”