2023 Watch List: Top 10 Precision Medicine Technologies and Issues

Basharat, Sinwan; Smith, Andrea; Darvesh, Nazia; Rader, Tamara

doi:10.51731/cjht.2022.590

Cited by 2 publications

(2 citation statements)

References 33 publications

(54 reference statements)

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“…Indeed, even though genetic disorders are relatively common in NICUs, many patients do not receive a diagnosis until after discharge 11,12 . In such a high acuity care setting and in an era where precision therapies are increasingly available 13 , there is urgent need to shorten the diagnostic odyssey for neonates admitted to the NICU.…”

Section: Introductionmentioning

confidence: 99%

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

Antoniou,

McGinley,

Metzler

et al. 2024

Preprint

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BackgroundGenetic disease is common in the Level IV Neonatal Intensive Care Unit (NICU), but neonatology providers are not always able to identify the need for genetic evaluation. We trained a machine learning (ML) algorithm to predict the need for genetic testing within the first 18 months of life using health record phenotypes.MethodsFor a decade of NICU patients, we extracted Human Phenotype Ontology (HPO) terms from clinical text with Natural Language Processing tools. Considering multiple feature sets, classifier architectures, and hyperparameters, we selected a classifier and made predictions on a validation cohort of 2,241 Level IV NICU admits born 2020-2021.ResultsOur classifier had ROC AUC of 0.87 and PR AUC of 0.73 when making predictions during the first week in the Level IV NICU. We simulated testing policies under which subjects begin testing at the time of first ML prediction, estimating diagnostic odyssey length both with and without the additional benefit of pursuing rGS at this time. Just by using ML to accelerate initial genetic testing (without changing the tests ordered), the median time to first genetic test dropped from 10 days to 1 day, and the number of diagnostic odysseys resolved within 14 days of NICU admission increased by a factor of 1.8. By additionally requiring rGS at the time of positive ML prediction, the number of diagnostic odysseys resolved within 14 days was 3.8 times higher than the baseline.ConclusionsML predictions of genetic testing need, together with the application of the right rapid testing modality, can help providers accelerate genetics evaluation and bring about earlier and better outcomes for patients.

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Section: Introductionmentioning

confidence: 99%

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

Antoniou,

McGinley,

Metzler

et al. 2024

Preprint

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“…The 2023 Watch List centred on precision medicine technologies. 1 The 2024 Watch List also focuses on a specific theme: children and youth with medical complexity. This Horizon Scan focuses on new and emerging technologies and the issues that may arise concomitantly when implementing them.…”

Section: Introductionmentioning

confidence: 99%

2024 Watch List: Top 10 Technologies and Issues Related to Caring for Children and Youth With Medical Complexity

CADTH

2024

cjht

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What Is the 2024 Watch List? The Watch List annual Horizon Scan report presents emerging technologies and issues that have the potential to shape the future of health care in Canada. CADTH’s 2024 Watch List focuses on care for children and youth with medical complexity. This top 10 has been divided in 2 parts — the top 5 technologies and top 5 issues related to children and youth with medical complexity that have the potential to make a significant and meaningful impact in transforming health systems in Canada over the next 5 years. These technologies and issues could shape the future of health care for not only children and youth with medical complexity, but also for others with chronic health conditions. Why Is This an Issue? Children and youth (people aged 24 years and younger) with medical complexity are a diverse group with a range of needs (e.g., single or multiple conditions, rare diseases). Although there is no single definition, common characteristics include significant functional limitations often causing the child or youth to be reliant on technology; high health care utilization, often requiring specialized care and services from different providers in multiple settings; and high health care service needs, such as care provision in the home and care coordination, which can have significant social and financial impacts on caregivers and the family. Children and youth with medical complexity account for less than 1% of all children and youth in Canada, but they account for 37% of hospital stays and 17% of emergency department visits. Due in part to the high number of health care interactions, this group experiences the effects of challenges within the health care system more acutely than their less medically complex peers. What Is the Potential Impact? The Watch List highlights areas for innovation, systems change, and investment. Advances in medical care have resulted in more children living with conditions that previously would not have been survivable in infancy and childhood. Now there are more children and youth with medical complexity, and they are living longer. Our current health systems were not designed to meet the complex needs of this group of people and their caregivers, including that many of them face challenges in accessing needed care. This year’s Watch List spotlights new and emerging technologies and key issues that could have a major impact on how patient care is provided to children and youth with medical complexity. What Else Do We Need to Know? In the 2024 Watch List, we identify and describe the top 5 new and emerging technologies that could shape the future of health care for children and youth with medical complexity in Canada, including new models of care and technologies and systems to improve communication. We also explore some considerations for health care decision-makers about the potential impact of these technologies on care pathways, health care human resources, health care infrastructure, and health equity. The 2024 Watch List also identifies the top 5 issues that limit health systems from providing optimal quality of care for children and youth with medical complexity. Key issues such as the need for increased interoperability between health systems and the need for strategies to improve sustainability warrant more attention and will influence the wider adoption, diffusion, and implementation of new and emerging technologies for children and youth with medical complexity. Monitoring ongoing developments and evidence related to the top technologies and issues highlighted in the 2024 Watch List can help guide health system planning in Canada and improve access to high-quality care.

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2023 Watch List: Top 10 Precision Medicine Technologies and Issues

Cited by 2 publications

References 33 publications

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

2024 Watch List: Top 10 Technologies and Issues Related to Caring for Children and Youth With Medical Complexity

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