Population DNA screening for medically actionable disease risk in adults

Lacaze, Paul; Tiller, Jane; Winship, Ingrid; Brotchie, Adam; McNeil, John J; Zalcberg, John; Thomas, David M.; Milne, Roger L.; James, P.; Delatycki, Martin; Young, Mary‐Anne; Nowak, Kristen J.; Nguyen-Dumont, Tú; Southey, Melissa C.; Ademi, Zanfina; Bruinsma, Fiona; Riaz, Moeen; Terrill, Bronwyn; Kirk, Judy; Tucker, Kathy; Andrews, Lesley; Pachter, Nicholas; Susman, Rachel; Poplawski, Nicola; Wallis, Matthew; Watts, Gerald F.; Nicholls, S.; Macrae, Finlay; Sturm, Amy C.; Green, Robert C.; Ahern, Susannah; Revote, Jerico; Saldern, Simon Von; Powell, Sarah; Rice, Toni

doi:10.5694/mja2.51454

Cited by 15 publications

(23 citation statements)

References 20 publications

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“…Two prospective general population‐testing studies are being implemented over the next year that will provide an initial evidence base for the assessment of population testing. The Australian ‘DNA screen pilot study’ will recruit 10 000 healthy individuals between 18 and 40 years of age through social media and offer testing for high‐risk BC/OC, Lynch syndrome and familial hypercholesterolaemia CSGs 29 . Our UK PROTECT (population‐based germline testing for early detection and cancer prevention) trial will evaluate the impact of implementing a population‐based panel genetic testing strategy for high‐ and moderate‐penetrance high‐risk BC/OC and Lynch syndrome CSGs in more than 5000 women aged >18 years recruited through primary care using a web‐based digitally enabled direct‐to‐patient saliva‐based DNA testing approach.…”

Section: Population Testing In the General Populationmentioning

confidence: 99%

Population‐based genetic testing for cancer susceptibility genes: quo vadis?

Manchanda

Sideris

2022

BJOG

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Section: Population Testing In the General Populationmentioning

confidence: 99%

Population‐based genetic testing for cancer susceptibility genes: quo vadis?

Manchanda

Sideris

2022

BJOG

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“…Pilot implementation studies in the general population have been initiated in Australia and the UK; (Lacaze et al, 2022;Yorkshire Cancer Research, 2022) more are needed in other jurisdictions.…”

Section: Next Steps/needs In Order To Advance Population Screeningmentioning

confidence: 99%

“…As test costs fall, it could become feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. Indeed, pilot initiatives in which hundreds of thousands of individuals will undergo genomic screening are being launched in health systems in the United States (U.S.) ( Carey et al, 2016 ; Schwartz et al, 2018 ; Lacaze et al, 2019 ; Grzymski et al, 2020 ), the United Kingdom (U.K.) ( Genomics England, 2021 ), and Australia ( Rowley et al, 2019 ; Lacaze et al, 2022 ). Leading hereditary conditions for consideration in population screening include hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH).…”

Section: Introductionmentioning

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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“…Population-based genomic testing (or ‘adult DNA screening’) for medically actionable conditions has the potential to improve public health by enabling early detection, treatment and/or prevention 1–4. This includes certain familial cancer predisposition syndromes and inherited heart conditions caused by single germline pathogenic DNA variants (table 1).…”

Section: Introductionmentioning

confidence: 99%

“…In Australia, a national pilot study of adult DNA screening has recently been established,2 offering DNA screening to 10 000 young adults aged 18–40 years for three adult-onset medically actionable genomic conditions (table 1). The DNA Screen pilot study will assess the delivery of population DNA screening for medically actionable conditions in Australia, and has been designed to inform the future potential development of a national population-based DNA screening programme.…”

Section: Introductionmentioning

confidence: 99%

Public willingness to participate in population DNA screening in Australia

et al. 2022

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BackgroundPopulation-based DNA screening for medically actionable conditions has the potential to improve public health by enabling early detection, treatment and/or prevention; however, public attitudes and willingness to participate in DNA screening have not been well investigated.MethodsWe presented a scenario to members of the Australian public, randomly selected from the electoral roll via the Australian Survey of Societal Attitudes, describing an adult population DNA screening programme currently under development, to detect risk of medically actionable cancers and heart disease. We asked questions regarding willingness to participate and pay, preferred delivery methods and concerns.ResultsWe received 1060 completed questionnaires (response rate 23%, mean age 58 years). The vast majority (>92%) expressed willingness to undertake DNA screening. When asked about the optimal age of screening, most (56%) favoured early adulthood (aged 18–40 years) rather than at birth or childhood. Many respondents would prefer samples and data be kept for re-screening (36%) or research use (43%); some preferred samples to be destroyed (21%). Issues that decrease likelihood of participation included privacy (75%) and insurance (86%) implications.ConclusionOur study demonstrates public willingness to participate in population DNA screening in Australia, and identifies barriers to participation, to be addressed in the design of screening programmes. Results are informing the development of a pilot national DNA screening programme.

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Population DNA screening for medically actionable disease risk in adults

Cited by 15 publications

References 20 publications

Population‐based genetic testing for cancer susceptibility genes: quo vadis?

Population‐based genetic testing for cancer susceptibility genes: quo vadis?

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

Public willingness to participate in population DNA screening in Australia

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