Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives

Houdayer, Françoise; Putois, Olivier; Babonneau, Marie Lise; Chaumet, H.; Joly, Lorraine; Juif, Christine; Michon, Clémence; Staraci, Stéphanie; Cretin, Elodie; Delanoue, S.; Charron, Philippe; Chassagne, Aline; Edery, Patrick; Gautier, Élodie; Lapointe, Anne-Sophie; Thauvin‐Robinet, Christel; Sanlaville, Damien; Gargiulo, Marcela; Faivre, Laurence

doi:10.1016/j.ejmg.2019.103711

Cited by 28 publications

(21 citation statements)

References 15 publications

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“…We found little or no differences in viewpoints between cancer patients and participants from the public concerning the topics covered. This is consistent with previous studies where patients and lay individuals expressed the will to enjoy their right to autonomous decision-making and showed no disposition to rely on providers for the return of genomic sequencing SFs (18)(19)(20)(21)(22). In Brothers et al (2017), patients wanted secondary variants to be analyzed and disclosed according to their preferences (23).…”

Section: Discussionsupporting

confidence: 90%

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Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

Cléophat

Dorval

Haffaf

et al. 2021

Preprint

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Background:Data on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure. Methods:Sixty-one cancer patients (n=29) and members of the public (n=32) participated in eight focus groups in Montreal and Quebec City, Canada. They were asked to provide their perspectives of five fictitious vignettes related to medically actionable and non-actionable SFs. A thematic analysis of the transcripts was conducted. Results:Cancer patients and members of the public were open to receive genomic SFs, considering their potential clinical and personal utility. They believed that the right to know or not and share or not such findings should remain the patient’s decision. They thought that the disclosure of SFs should be made mainly in person by the prescribing clinician. Maintaining confidentiality when so requested and preventing genetic discrimination were considered essential. Conclusion:Participants in this study welcomed the prospect of disclosing genomic SFs, as long as the right to choose to know or not to know is preserved. Policies and practice guidelines aiming to protect genetic information confidentiality, and patients’ and families’ autonomy, physical and psychosocial wellbeing are expected.

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Section: Discussionsupporting

confidence: 90%

“…However, a participant from the general population, seemingly proud of having survived several serious diseases, reported that he did not want to hear anything about predisposition to an additional disease. In the same vein, most hereditary cancer patients in Houdayer et al (2019) were unfavorable to the search for SFs.…”

Section: Discussionmentioning

confidence: 98%

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

Cléophat

Dorval

Haffaf

et al. 2021

Preprint

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“…Researchers are familiar with unexpected off-target ''incidental findings'' in ES or GS, that is, findings unrelated to the disorder under consideration. 57 Because such findings arise frequently, a policy regarding communication…”

Section: Laboratory Test Reporting A) How Does the Laboratory Repmentioning

confidence: 99%

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Brown

Sturm²,

Cuchel

et al. 2020

Journal of Clinical Lipidology

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The genetic basis for more than 2 dozen monogenic dyslipidemias has largely been defined. Genetic technologies, such as DNA sequencing, can detect both rare and common DNA variants underlying dyslipidemias, and these methods are increasingly available. Although patients with extreme abnormalities in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol may be considered for genetic testing, it is only in a minority of patients that the results will alter treatment or outcomes. Currently, there is potential clinical utility of genetic testing for familial hypercholesterolemia, familial chylomicronemia syndrome, sitosterolemia, lysosomal acid lipase deficiency, and a few other rare disorders, and this will increase the demand for reliable genetic diagnostic methods at lower cost. Clinical indications for genetic testing for most dyslipidemias are not clearly established and currently no guidelines exist. A shared decision-making model between the patient and the provider is essential as patient values and preferences play a very strong role. Potential benefits of genetic testing include providing a firm diagnosis in many cases, guiding optimal management and prevention strategies, advancing care strategies beyond currently available treatments, and contributing to overall scientific progress. Understanding the limitations and risks of genetic testing techniques is also important, as is careful interpretation of genetic test results to achieve the greatest benefit. Here we review laboratory methods, as well as technical, biological, clinical, and ethical implications and applications of genetic testing in dyslipidemias.

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“…Les patients sont également influencés par la confiance qu'ils ont dans leur médecin qui leur fait signer le consentement et par le manque de recul sur les conséquences que peuvent avoir de telles connaissances sur eux. Distinguer deux consentements leur permettrait de bénéficier d'un délai de réflexion ainsi que d'une information plus complète nécessaire à la prise de décision comme cela est actuellement recommandé dans le diagnostic présymptomatique [24,32]. Nous nous inquiétons du retentissement personnel et familial, potentiellement délétère, pour les individus d'avoir connaissance de données additionnelles sans y avoir été bien préparés.…”

Section: Favoriser L'autonomie Du Patient Face Aux Données Additionneunclassified

“…Comme d'autres auteurs, cette position nous interroge puisqu'une donnée additionnelle chez un patient n'ayant pas d'antécédents familiaux particuliers et asymptomatiques pour la pathologie en question est aussi incertaine qu'une donnée additionnelle identifiée chez une personne de la population générale ; l'ACMG le souligne elle-même : « We also recognize the danger in moving forward with population-based screening in the absence of robust evidence » [22,23]. Au lieu de réduire les incertitudes, le rendu des données additionnelles risque donc d'en ajouter, accompagnées de nouvelles angoisses, en plus de celles liées à la donnée primaire [24].…”

Section: Introductionunclassified

Favoriser l'autonomie du patient face aux données additionnelles en médecine génomique

2019

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In recent years, we have witnessed a technological revolution in molecular genetics with the advent of next-generation sequencing (NGS). During medical genetics consultations in hospitals, patients are confronted with the difficult question of research and disclosure of so-called additional data, which are not related to their pathology, the primary data. This may be incidental data (the discovery is incidental) or secondary data, i.e., data actively searched for in a defined list of genes. How can we ensure that patients are sufficiently autonomous in dealing with this issue? What is the role of the healthcare team? Can we harmonize practices with respect to these data? We propose a variable scale strategy applied to genetics that consists in adapting the degree of autonomy required according to the medical impact and the level of reliability of the genetic data transmitted to the patient. We also provide elements to promote patient autonomy. We believe it is necessary to separate primary from additional data, to develop the means to provide adequate information to patients, and finally to support patients in their process with psychological support and to respecting a certain period of reflection. Ultimately, it is the responsibility of the medical team to assess, on a case-by-case basis, the appropriateness of seeking this data and disclosing it to the patient.

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Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives

Cited by 28 publications

References 15 publications

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association

Favoriser l'autonomie du patient face aux données additionnelles en médecine génomique

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