The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

Abstract

Purpose: Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of genomic screening in healthy adult populations. Yet, little is known about the existing landscape of genomic screening programs in the United States. It can be difficult to find information on current implementation efforts and best practices, particularly in light of critical questions about equity, cost, and benefit. Methods: In 2020, we searched publicly available information on the Internet and the scientific literature to identify programs and collect information, including: setting, program funding, targeted population, test offered, and patient cost. Program representatives were contacted throughout 2020 and 2021 to clarify, update, and supplement the publicly available information. Results: Twelve programs were identified. Information was available on key program features, such as setting, genes tested, and target populations. Data on costs, outcomes, or long-term sustainability plans were not always available. Most programs offered testing at no or significantly reduced cost due to generous pilot funding, although the sustainability of these programs remains unknown. Gene testing lists were diverse, ranging from 11 genes (CDC tier 1 genes) to 59 genes (ACMG secondary findings list v.2) to broad exome and genome sequencing. This diversity presents challenges for harmonized data collection and assessment of program outcomes. Conclusions: Early programs are exploring the logistics and utility of population genomic screening in various settings. Coordinated efforts are needed to take advantage of data collected about uptake, infrastructure, and intervention outcomes to inform future research, evaluation, and program development.

Lessons Learned from the Pilot Phase of a Population-Wide Genomic Screening Program: Building the Base to Reach a Diverse Cohort of 100,000 Participants

“…While each clinical site identified a provider champion and site administrative lead, all recruitment occurred outside of the clinical setting (e.g., providers and staff were not responsible for consenting). Previous reviews have emphasized the value of provider champions and primary care providers for enrollment [ 6 ]. Since the pilot phase, we have further expanded clinical sites that are collecting samples and implemented enhancements to training for provider champions and clinical site leads to increase engagement and understanding of In Our DNA SC .…”

“…Despite the accessibility of genetic information and growth in population-based screening, challenges exist to scaling up these approaches, including engaging large multidisciplinary teams of researchers and clinicians, ensuring public understanding of genetic information, equitable access and participation of diverse populations in genetic screening, and sustainability of population-based genetic screening programs [ 6 , 7 ]. Synergistic efforts to optimally use genomic information to inform clinical care and improve population health requires the use of implementation science to assess engagement with learning health systems, define and monitor project outcomes, and refine and evaluate processes for improvement.…”

2023 Watch List: Top 10 Precision Medicine Technologies and Issues

“…66 Different pilot programs around the world 67 are under way to assess the value, feasibility, and implementation considerations of expanding screening programs by offering genetic testing. 68 If certain tests are made more widely available, they could facilitate the earlier diagnosis of health conditions, prevent some health-related complications, reduce delays in getting treatments, and help improve outcomes. 69 Expanding genetic testing to a greater number of people may also support efforts to improve the size and diversity of genomic databases, which would help improve analyses and better inform care.…”

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

“…While there are guideline-endorsed, evidence-based strategies to reduce morbidity and mortality for these conditions, several studies suggest that only a proportion of individuals with pathogenic variants identified through population genomic screening approaches actually uptake the associated risk-reducing interventions ( Elhanan et al, 2022 ). Furthermore, studies on clinical effectiveness and ongoing pilot studies ( Foss et al, 2022 ) have primarily employed observational or retrospective designs which suffer from multiple sources of bias (e.g., missing data, loss to follow up) that could reduce the quality of the evidence. However, among the AJ population, there is substantial evidence to support population screening for BRCA1/2, including high acceptability, satisfaction, uptake of preventive strategies, in addition to improvements in long term outcomes and reduced costs ( Metcalfe et al, 2010a ; Metcalfe et al, 2010b ; Metcalfe et al, 2012 ; Metcalfe et al, 2013 ; Gabai-Kapara et al, 2014 ; Manchanda et al, 2015a ; Manchanda et al, 2015b ; Manchanda et al, 2016 ; Lieberman et al, 2017a ; Lieberman et al, 2017b ; Manchanda et al, 2017 ; Manchanda et al, 2019 ; Manchanda et al, 2020a ; Manchanda et al, 2020c ; Reisel et al, 2022 ).…”