A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system

Martyn, Melissa; Kanga-Parabia, A; Lynch, Elly; James, Paul; Macciocca, Ivan; Trainer, Alison H.; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia; Walsh, Maie; Downie, Lilian; Amor, David J.; Wallis, Mathew; Cunningham, Fiona; Burgess, Matthew; Brown, Natasha J; Jarmolowicz, Anna; Lunke, Sebastian; Goranitis, Ilias; Gaff, Clara

doi:10.1002/jgc4.1102

Cited by 14 publications

(25 citation statements)

References 36 publications

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“…In some circumstances it may be possible to conduct the pre‐test counselling and result disclosure for secondary findings at a separate time and location, for example through attendance at a specialized clinic that could take place at a time after the birth of the baby. Such a ‘two‐step’ approach to offering additional findings has been trialled in both the adult 35 and newborn 36 contexts, and may provide a solution to some of the challenges of offering secondary findings in the prenatal setting, alleviating time pressure and ensuring availability of suitably qualified staff.…”

Section: Practical Considerationsmentioning

confidence: 99%

A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

Vears

Amor

2022

Prenatal Diagnosis

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As the use of genomic sequencing (GS) in the prenatal setting becomes more widespread, laboratories and clinicians will be tasked with making decisions about whether to offer incidental and secondary findings to expectant parents and, if so, which ones. Unfortunately, few guidelines or position statements issued by professional bodies address the return of secondary findings specifically in the context of prenatal GS, nor do they offer clear guidance on whether, and which types of incidental findings should be reported. Laboratories and clinicians will also need to navigate other challenges, such as how to obtain sufficiently informed consent, workload burdens for both laboratories and clinicians, and funding. Here we discuss these, and other challenges associated with offering incidental and secondary findings in the context of prenatal GS. We outline existing guidelines for return of these findings, prenatally and in children. We review the existing literature on stakeholder perspectives on return of incidental and secondary findings and discuss the main practical and ethical challenges that require consideration. We then propose a framework to help guide decision-making, suggesting a baseline routine analysis, with additional layers of analysis that could be offered, according to local laboratory policy, with additional opt-in consent from the parents. Key points What's already known about this topic?� The use of genomic sequencing (GS) in the prenatal setting is becoming more widespread.� Few guidelines or position statements from professional bodies address returning secondary findings in the context of prenatal GS. What does this review add?� We summarize existing guidelines and literature on the topic.� We discuss practical and ethical challenges that require consideration.� We propose a framework to guide decision-making, suggesting baseline routine analysis, with additional layers of analysis that could be offered, with opt-in parental consent.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Section: Practical Considerationsmentioning

confidence: 99%

A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

Vears

Amor

2022

Prenatal Diagnosis

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“…Genomic testing offers potential for developments in health care but also risks for the privacy and autonomy of individuals and their families [ 25 , 26 ]. The resulting data can be analysed for reasons unrelated to the original reason for testing, including predictive information on future diseases [ 14 ]. Two projects focussed on pre-emptive “Additional Genomics Findings”, which are alterations in genes that are associated with medically actionable and serious conditions.…”

Section: Main Bodymentioning

confidence: 99%

“…One project offered parents of a child undergoing sequencing to detect the cause of bilateral hearing loss the opportunity to find out about other treatable and non-treatable conditions that occur in childhood [ 27 ]. The second offered adults whose diagnostic testing was complete the opportunity to have their data re-analysed for actionable conditions that occur in adulthood [ 14 ]. A member of the CAG was involved in this project.…”

Section: Main Bodymentioning

confidence: 99%

“…The data generated from genome sequencing can be stored and re-analysed as our knowledge of associations with health conditions increases and new treatments become available. It therefore has the potential to inform research and health care [ 14 ]. An objective of the Alliance was to forge a path forward for patients, clinicians and researchers to benefit from the enormous potential of genomics [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

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Making community voices heard in a research–health service alliance, the evolving role of the Community Advisory Group: a case study from the members’ perspective

Wale¹,

Pietro

Renton³

et al. 2021

Res Involv Engagem

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Background The Melbourne Genomics Health Alliance (the Alliance) is a collaboration of leading hospitals, research and academic organisations, supported by its member organisations and the Victorian Government. The Alliance was set up by its members in 2013 to steer the translation of genomics, making it an integral part of health care in Victoria, Australia. The Community Advisory Group (CAG) was formed soon after, to give input and advice across the program. This was to ensure consideration of community values, perspectives and priorities, and knowledge translation for patient care. The CAG was charged with providing a strong community voice for the duration of the program. Appointed members were experienced consumer advocates with developed connections to the community. Main body The Alliance progressed from an initial Demonstration Project (2013–2015) to a multifaceted program (2016–2020). The CAG worked strategically to help address complex issues, for example, communication, privacy, informed consent, ethics, patient experience, measurement and evaluation standards and policies, data storage and re-use of genomic data. Many aspects of translating genomics into routine care have been tackled, such as communicating with patients invited to have genomic testing, or their caregivers, and obtaining informed consent, clinical questions across 16 areas of health care, training and education of health and laboratory professionals, genomic data management and data-sharing. Evidence generated around clinical utility and cost-effectiveness led to government funding of testing for complex genetic conditions in children. Conclusion The CAG activities, recorded in a CAG-inspired Activity register, span the full spectrum of information sharing and consultation to co-design and partnership. The CAG were involved at multiple levels of participation and in all tiers of activity including governance, development of policies and procedures, program planning and evaluation. Working relationships were built up and a level of trust instilled to advance the Alliance work program in ensuring an effective patient-care model of delivery of genomics. CAG input into project deliverables has been tangible. Less tangible contributions included presentations at external meetings and conferences, direct interactions at meetings with Alliance members, interactions with visitors and external experts, taking part in consultations with experts, state and federal government.

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“…In the wake of the ACMG recommendations, variations of this approach have also been proposed or implemented in different European countries, including the United Kingdom (100,000 Genomes Project, ongoing) and France [7]. These initiatives have sparked debate about the ethics of these strategies [8][9][10], also leading to research projects aimed at charting the ethical, legal, and social issues (ELSI) linked with opportunistic screening in genomic medicine [11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

et al. 2020

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If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings—so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

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A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system

Cited by 14 publications

References 36 publications

A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

Making community voices heard in a research–health service alliance, the evolving role of the Community Advisory Group: a case study from the members’ perspective

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

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