Towards a European consensus for reporting incidental findings during clinical NGS testing

Hehir-Kwa, Jayne Y.; Claustres, Mireille; Hastings, Ros; Ravenswaaij-Arts, Conny M. A. van; Christenhusz, Gabrielle; Genuardi, Maurizio; Melegh, Béla; Cambon‐Thomsen, Anne; Patsalis, Philippos C.; Vermeesch, Joris Robert; Cornel, Martina C.; Searle, Beverly; Palotie, Aarno; Capoluongo, Ettore; Peterlin, Borut; Estivill, Xavier; Robinson, Peter N.

doi:10.1038/ejhg.2015.111

Cited by 83 publications

(73 citation statements)

References 31 publications

(33 reference statements)

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“…In 2016, a US‐based study conducted a survey of US laboratories to assess their reporting practices (O'Daniel et al., ). However, aside from a brief survey of nine European laboratories undertaken in 2013 (Hehir‐Kwa et al., ), no one has investigated the current practices, or perspectives, of laboratory personnel who are actually reporting results from NGS about the reporting of UF or SF outside the USA.…”

Section: Introductionmentioning

confidence: 99%

Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel

2017

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Section: Introductionmentioning

confidence: 99%

Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel

2017

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“…Regardless, with an increasing number of cardiac secondary findings being reported from whole exome sequencing, North American genetic counselors may be becoming more relaxed in their views around predictive genetic testing in minors (Kalia et al ). Debate remains among European, Australian, and Canadian professional groups regarding the reporting of secondary findings and a more targeted approach to testing is currently recommended (Boycott et al ; Hehir‐Kwa et al ; RCPA ).…”

Section: Discussionmentioning

confidence: 99%

Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy

Christian

Somerville

Huculak

et al. 2018

Journal of Genetic Counseling

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Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC. Analysis was both quantitative and qualitative. The study sample comprised 98 respondents. The majority reported that they offer predictive genetic testing before 5 years of age to children at risk of LQTS (83%) and CVPT (75%) and before 10 years of age to children at risk of HCM (66%) or ARVC (70%). Influencing factors included country of practice, clinical setting, and years of experience. The rationale provided for when to offer predictive genetic testing is encompassed by the ethical principles of beneficence, non-maleficence, autonomy, and informed consent. In conclusion, significant practice variation exists among cardiac genetic counselors regarding predictive genetic testing for children at risk of an inherited cardiomyopathy. These variations call for more research in the area to assist with the development of evidence-based guidelines.

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“…The literature now includes guidance from the American College of Medical Genetics and other professional societies on standardizing terminology related to interpretation of sequence variants [32] and templates for genome sequencing reports [33,34], as well as studies of patient preferences related to reporting [35,36]. Relatedly, groups in the USA and Europe have been working to achieve consensus on reporting for incidental findings [37,38]. These are promising signs that this set of challenges can be resolved through these mechanisms in a relatively timely fashion.…”

Section: Discussionmentioning

confidence: 99%

Barriers to Clinical Adoption of Next-Generation Sequencing: A Policy Delphi Panel’S Solutions

et al. 2017

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Aim Identify solutions to the most important policy barriers to the clinical adoption of next-generation sequencing. Materials & methods Four-round modified policy Delphi with a multistakeholder panel of 48 experts. The panel deliberated policy solutions to (previously reported) challenges deemed most important to address. Results The group advocated using consensus panels to promote consistency in payer policies and to standardize test reporting, and favored making genomic data-sharing a condition of regulatory clearance, certification, or accreditation processes. They were split on the role of US FDA. Conclusion Panelists found common ground on solutions for health plan coverage policy consistency, data-sharing, and standardizing reporting, but were sharply divided on the role of the FDA in mitigating risks to patients.

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Towards a European consensus for reporting incidental findings during clinical NGS testing

Cited by 83 publications

References 31 publications

Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel

Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel

Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy

Barriers to Clinical Adoption of Next-Generation Sequencing: A Policy Delphi Panel’S Solutions

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