Abstract
In clinical practice and in research, there is an ongoing debate on how to return incidental and secondary findings of genetic tests to patients and research participants. Previous investigations have found that most of the people most of the time are in favor of full disclosure of results. Yet, the option to reject disclosure, based on the so-called right not to know, can be valuable especially for some vulnerable subgroups of recipients. In the present study we investigated variations in informational preferences in the context of genetic testing in a large and diverse German sample. This survey examined health care professionals, patients, participants of genetic counseling sessions and members of the general population (N = 518). Survey participants were assessed regarding their openness to learning about findings under various hypothetical scenarios, as well as their attitudes about the doctor-patient-relationship in a disclosure situation and about informational transfer to third parties. While the majority of participants wanted to learn about their findings, the extent of support of disclosure varied with features of the hypothetical diagnostic scenarios (e.g., controllability of disease; abstract vs. concrete scenario description) and demographic characteristics of the subjects. For example, subjects with higher levels of education were more selective with regards to the kind of information they want to receive than those with lower levels of education. We discuss implications of these findings for the debate about the right not to know and for the clinical practice of informed consent procedures.
Highlights
The rapidly increasing use of high throughput genome sequencing techniques in medicine is accompanied by a increasing number of ethical and juridical questions
The American College of Medical Genetics and Genomics (ACMG) defines incidental or additional findings as “. . .results of a deliberate search for pathogenic or likely pathogenic alterations in genes that are not apparently relevant to a diagnostic indication for which the sequencing test was ordered [. . .] but that may be of medical value or utility to the ordering physician and the patient” [4]
In the first sub-section we present descriptive results regarding informational preferences across the entire sample to convey a descriptive impression of the attitudes of our subjects
Summary
The rapidly increasing use of high throughput genome sequencing techniques in medicine is accompanied by a increasing number of ethical and juridical questions. Of particular importance is the implementation of high throughput procedures in clinical practice [1,2], where it can be used for various purposes (e.g., to individualize treatment by predicting a patient’s tolerance of different medication options). The entire human genome can be sequenced and analyzed rapidly at ever-decreasing costs. Such high-throughput methods are very likely to produce incidental findings [3]. The American College of Medical Genetics and Genomics (ACMG) defines incidental or additional findings as “. Secondary findings are defined as findings that are “actively sought by a practitioner that is not the primary target” (Presidential Commission for the Study of Bioethical Issues, 2013)
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