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Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection

(2020)
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(UGent) , (UGent) and (UGent)
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Abstract
Background and research objectives Genetic testing is becoming a standard procedure in clinical care. Whereas previous methods of diagnostic testing were mainly focussed on disease-specific genes, current methods are often genome-wide. This implies that diagnostically unrelated findings may be unintentionally revealed (as incidental findings or IFs) and/or that they may be actively pursued as secondary findings (SFs). IFs and SFs can allow for preventive or therapeutic actions but they may also result in distress or harmful interventions. International advisory boards, professional organisations and patients have expressed different views on these potential findings. The main objective of this dissertation is to examine practices and perspectives concerning the meaning and disclosure of IFs and SFs in a context of clinical testing in adults. This objective is realised by means of an empirical, qualitative research approach that captures both professional and patient voices and that covers both policy and ethical concerns. More specifically, this dissertation focusses on professional disclosure practices and policies in Belgian centres for medical genetics (CMGs) and on the meaning of potential IFs and SFs from a patient perspective. Results A focus group study with genetic professionals in Belgian CMGs indicated that the clinical significance of an IF is a major criterion for disclosure. This means that reported IFs should be pathogenic and actionable. However, these criteria are difficult to interpret unambiguously. Secondly, a diversified practice, based on clinical, practical and ethical arguments, concerning a patient opt-out of medically actionable IFs was revealed across Belgian CMGs. Finally, an interaction between particular patient characteristics and the significance of a specific IF can affect disclosure, which creates the need for deliberation and a tension between general guidelines and case-by-case decisions. At value level, Belgian professionals frequently called upon respect for patient autonomy, non-maleficence and beneficence to support disclosure practices. With respect to medically actionable IFs, some professionals considered the value of patient autonomy as superseded by the professional duties of care and avoiding harm, which may result in a mandatory disclosure of these findings. This missing opt-out possibility can be conceptualised as technological soft paternalism. Its arguments and consequences, including assumptions about patients’ genetic literacy, a normative rationality and beneficent outcomes, are critically questioned. The value of distributive justice is additionally included as an important factor concerning the scope of the debate on IFs and SFs. Subsequently, this dissertation thoroughly examines the perspective of adults with an inherited retinal disease (IRD) on the meaning of IFs. An interview study showed that these patients assign a complex meaning to IFs that largely transcends clinical, result-centred components such as actionability or psychological consequences. Instead, also lived experiences of an IRD, patients’ family embedding and a family history of disease affect the interpretation of IFs. This nuanced meaning structure of IFs should be taken into account in the development of effective counselling procedures. Given the nuanced interpretation of IFs and SFs, both genetic professionals and patients may experience uncertainty concerning the meaning and potential disclosure of IFs and SFs. However, the causes and consequences of these uncertainties diverge. Whereas professionals are more concerned about epistemic causes and scientific consequences of uncertainty, patients mainly focus on lived experiences and personal consequences of uncertainty. A rapprochement of these uncertainties may result in a conjointly constructed and case-specific meaning of IFs and SFs that can contribute to an efficient policy.
Keywords
Clinical genomics, Incidental and secondary findings, Bioethics

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MLA
Saelaert, Marlies. Disclosing Incidental and Secondary Findings in Clinical Genomics : Professional Practice, Patient Experience and Ethical Reflection. Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen, 2020.
APA
Saelaert, M. (2020). Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection. Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen.
Chicago author-date
Saelaert, Marlies. 2020. “Disclosing Incidental and Secondary Findings in Clinical Genomics : Professional Practice, Patient Experience and Ethical Reflection.” Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen.
Chicago author-date (all authors)
Saelaert, Marlies. 2020. “Disclosing Incidental and Secondary Findings in Clinical Genomics : Professional Practice, Patient Experience and Ethical Reflection.” Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen.
Vancouver
1.
Saelaert M. Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection. Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen; 2020.
IEEE
[1]
M. Saelaert, “Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection,” Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen, 2020.
@phdthesis{8660579,
  abstract     = {Background and research objectives
Genetic testing is becoming a standard procedure in clinical care. Whereas previous methods of diagnostic testing were mainly focussed on disease-specific genes, current methods are often genome-wide. This implies that diagnostically unrelated findings may be unintentionally revealed (as incidental findings or IFs) and/or that they may be actively pursued as secondary findings (SFs). IFs and SFs can allow for preventive or therapeutic actions but they may also result in distress or harmful interventions. International advisory boards, professional organisations and patients have expressed different views on these potential findings. 
The main objective of this dissertation is to examine practices and perspectives concerning the meaning and disclosure of IFs and SFs in a context of clinical testing in adults. This objective is realised by means of an empirical, qualitative research approach that captures both professional and patient voices and that covers both policy and ethical concerns. More specifically, this dissertation focusses on professional disclosure practices and policies in Belgian centres for medical genetics (CMGs) and on the meaning of potential IFs and SFs from a patient perspective. 

Results 
A focus group study with genetic professionals in Belgian CMGs indicated that the clinical significance of an IF is a major criterion for disclosure. This means that reported IFs should be pathogenic and actionable. However, these criteria are difficult to interpret unambiguously. Secondly, a diversified practice, based on clinical, practical and ethical arguments, concerning a patient opt-out of medically actionable IFs was revealed across Belgian CMGs. Finally, an interaction between particular patient characteristics and the significance of a specific IF can affect disclosure, which creates the need for deliberation and a tension between general guidelines and case-by-case decisions. 
At value level, Belgian professionals frequently called upon respect for patient autonomy, non-maleficence and beneficence to support disclosure practices. With respect to medically actionable IFs, some professionals considered the value of patient autonomy as superseded by the professional duties of care and avoiding harm, which may result in a mandatory disclosure of these findings. 
This missing opt-out possibility can be conceptualised as technological soft paternalism. Its arguments and consequences, including assumptions about patients’ genetic literacy, a normative rationality and beneficent outcomes, are critically questioned. The value of distributive justice is additionally included as an important factor concerning the scope of the debate on IFs and SFs.
Subsequently, this dissertation thoroughly examines the perspective of adults with an inherited retinal disease (IRD) on the meaning of IFs. An interview study showed that these patients assign a complex meaning to IFs that largely transcends clinical, result-centred components such as actionability or psychological consequences. Instead, also lived experiences of an IRD, patients’ family embedding and a family history of disease affect the interpretation of IFs. This nuanced meaning structure of IFs should be taken into account in the development of effective counselling procedures. 
Given the nuanced interpretation of IFs and SFs, both genetic professionals and patients may experience uncertainty concerning the meaning and potential disclosure of IFs and SFs. However, the causes and consequences of these uncertainties diverge. Whereas professionals are more concerned about epistemic causes and scientific consequences of uncertainty, patients mainly focus on lived experiences and personal consequences of uncertainty. A rapprochement of these uncertainties may result in a conjointly constructed and case-specific meaning of IFs and SFs that can contribute to an efficient policy.},
  author       = {Saelaert, Marlies},
  keywords     = {Clinical genomics,Incidental and secondary findings,Bioethics},
  language     = {eng},
  pages        = {240},
  publisher    = {Universiteit Gent. Faculteit Geneeskunde en Gezondheidswetenschappen},
  school       = {Ghent University},
  title        = {Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection},
  year         = {2020},
}