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- Hammond, J, et al.
(författare)
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Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design
- 2022
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Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 17:1, s. e0261898-
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Tidskriftsartikel (refereegranskat)abstract
- Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of uncertain significance and secondary findings. We aimed to develop a set of attributes and associated levels for a discrete-choice experiment (DCE) that will examine parents’ preferences for tests that may reveal uncertain test results. A two phase mixed-methods approach was used to develop attributes for the DCE. In Phase 1, a “long list” of candidate attributes were identified via two approaches: 1) a systematic review of the literature around parental experiences of uncertainty following prenatal testing; 2) 16 semi-structured interviews with parents who had experienced uncertainty during pregnancy and 25 health professionals who return uncertain prenatal results. In Phase 2, a quantitative scoring exercise with parents prioritised the candidate attributes. Clinically appropriate levels for each attribute were then developed. A final set of five attributes and levels were identified: likelihood of getting a result, reporting of variants of uncertain significance, reporting of secondary findings, time taken to receive results, and who tells you about your result. These attributes will be used in an international DCE study to investigate preferences and differences across countries. This research will inform best practice for professionals supporting parents to manage uncertainty in the prenatal setting.
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- Soller, MJ, et al.
(författare)
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How to do genetic counseling in psychiatry?
- 2021
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Ingår i: EUROPEAN PSYCHIATRY. - : Royal College of Psychiatrists. - 0924-9338 .- 1778-3585. ; 64, s. S50-S50
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Genetic counselling has been defined as the process of helping people “understand and adapt to medical, psychosocial, and familial aspects of genetic conditions.” It can also help patients and families deal with stigma and understand the significance of possible genetic findings. Psychiatric genetic counselling (PGC) is an emerging field aimed to help people with a personal or family history of psychiatric illnesses such as schizophrenia, bipolar disorder, or neuropsychiatric conditions, to understand genetic etiological mechanisms as a critical component. Counselling strategies are used to identify and adapt to psychological and familial consequences of the conditions and to reduce stigma surrounding the psychiatric illness. A recent survey showed that PGC is still not routinely offered and usually only discussed at the initiative of the patient, e.g. if they ask about the possibility of “hereditary" illness, or if a caregiver during a session for another indication, identifies the family history. If a monogenetic or chromosomal cause is identified, the genetic counselling follows a more traditional path, but if, on the other hand, the cause is complex, the counselling will not be as clearcut. It will then focus on explaining risk for disease with quite uncertain riskscores as no causative genetic change is identified. Although genetic testing most often cannot be offered and individual risk scores based on genetic markers cannot be given, there is still great value for patients and their relatives in PGC. Studies have shown that the effect of PGC is an increase of empowerment and a reduction of stigma.No significant relationships.
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