First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons

Walsh, Roddy; Bezzina, Connie R.; Wilde, Arthur A.M.

doi:10.1161/circulationaha.122.058738

Cited by 2 publications

(2 citation statements)

References 16 publications

(23 reference statements)

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“…GM’s high costs and limited data currently serve as the primary challenges preventing maximal PM development. Works by Walsh et al suggested that GM costs can be a low-value investment for diseases with low penetrance genes (i.e., rare diseases or conditions) [ 32 ]. With rarer diseases and conditions, new GM research and technology may not be worth the cost, bringing into question if there are less expensive alternatives that can provide similar outcomes compared to GM.…”

Section: Reviewmentioning

confidence: 99%

An Overview of the Use of Precision Population Medicine in Cancer Care: First of a Series

Yang¹,

Nittala²,

Velazquez³

et al. 2023

Cureus

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Advances in science and technology in the past century and a half have helped improve disease management, prevention, and early diagnosis and better health maintenance. These have led to a longer life expectancy in most developed and middle-income countries. However, resource- and infrastructure-scarce countries and populations have not enjoyed these benefits. Furthermore, in every society, including in developed nations, the lag time from new advances, either in the laboratory or from clinical trials, to using those findings in day-to-day medical practice often takes many years and sometimes close to or longer than a decade. A similar trend is seen in the application of “precision medicine” (PM) in terms of improving population health (PH). One of the reasons for such lack of application of precision medicine in population health is the misunderstanding of equating precision medicine with genomic medicine (GM) as if they are the same. Precision medicine needs to be recognized as encompassing genomic medicine in addition to other new developments such as big data analytics, electronic health records (EHR), telemedicine, and information communication technology. By leveraging these new developments together and applying well-tested epidemiological concepts, it can be posited that population/public health can be improved. In this paper, we take cancer as an example of the benefits of recognizing the potential of precision medicine in applying it to population/public health. Breast cancer and cervical cancer are taken as examples to demonstrate these hypotheses. There exists significant evidence already to show the importance of recognizing “precision population medicine” (PPM) in improving cancer outcomes not only in individual patients but also for its applications in early detection and cancer screening (especially in high-risk populations) and achieving those goals in a more cost-efficient manner that can reach resource- and infrastructure-scarce societies and populations. This is the first report of a series that will focus on individual cancer sites in the future.

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Section: Reviewmentioning

confidence: 99%

An Overview of the Use of Precision Population Medicine in Cancer Care: First of a Series

Yang¹,

Nittala²,

Velazquez³

et al. 2023

Cureus

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“…This was not a systematic review, nor was a formal quality appraisal of studies conducted. Moreover, this review was limited to Tier 1 conditions-future research and evidence synthesis will be needed to address other actionable gene-condition pairs (e.g., other genes for hereditary breast and ovarian cancer including PALB2, RAD51C, RAD51D, and BRIP1 ( Manchanda et al, 2018 ); TTR for hereditary transthyretin amyloidosis ( Soper et al, 2021 ); endocrine tumour genes ( Savatt et al, 2022 ); arrhythmia syndrome genes ( Walsh et al, 2022 )) and their suitability for population genomic screening.…”

Section: Limitationsmentioning

confidence: 99%

From the patient to the population: Use of genomics for population screening

et al. 2022

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Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

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First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons

Cited by 2 publications

References 16 publications

An Overview of the Use of Precision Population Medicine in Cancer Care: First of a Series

An Overview of the Use of Precision Population Medicine in Cancer Care: First of a Series

From the patient to the population: Use of genomics for population screening

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