Genetic Healthcare Professionals Research Articles

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

Whole genomic sequencing (WGS) promises significant personalized health benefits, and its increasingly low cost makes wide clinical use inevitable. However, a core challenge is "incidental findings" (IF). Using focus groups, we explored attitudes about the disclosure of IF in clinical settings from three perspectives: Genetics health-care professionals, the general public, and parents whose children have experienced genetic testing. Analysis was based on a framework approach. All three groups considered practical and ethical considerations. There was consensus that IF presented challenges for disclosure and a pre-test patient-clinician discussion was vital for clarification and agreement. The professionals favored targeted analysis to limit data handling and focus pre-test discussions on medical relevance. Their perspective highlighted ethical concepts of justice and beneficence. The lay groups' standpoint emphasized autonomy and patients' rights to choose what findings they receive, and that patients accept the consequences of any potential anxiety and uncertainty. The lay groups also felt that it was their responsibility to check genomic developments over time with their original test results and saw patient responsibility as an important part of patient choice.

Are family-oriented interventions in Portuguese genetics services a remote possibility? Professionals’ views on a multifamily intervention for cancer susceptibility families

This article examines genetics healthcare professionals' opinions about a multifamily psychoeducational programme for hereditary cancer susceptibility families, implemented at a Portuguese genetics service. Their views on how a family-oriented approach is envisioned to be incorporated in Portuguese genetic counselling services are also reported. Six focus groups and three individual interviews were undertaken comprising 30 professionals working in the provision of genetic counselling and genetic counsellor trainees. Participants were given a page-summary describing the intervention and asked to comment the strengths and limitations of the multifamily intervention. All interviews were fully transcribed and analysed using the constant comparison method. The qualitative analysis generated data comprising four thematic categories in relation to the professionals' views: (a) usefulness of the programme; (b) programme's methodological and practical obstacles; (c) genetics services constraints; and (d) suggestions for improving the programme and further family-oriented interventions. We reflect on the reported views examining the intervention, and on how current constraints of genetic services limit the provision of psychosocial support for cancer susceptibility families. The implications of these findings regarding the purpose of genetic counselling are discussed. Results may sensitise stakeholders and policy makers for the need to deliver family-based services in cancer genetic counselling, with adequate planning and collaborative involvement of different professionals.

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

ObjectiveTo calculate and discuss the percentage of imbalance for selected cancer predisposition genes in patients referred for routine diagnostic array comparative genomic hybridisation (CGH).DesignAudit of findings from application of array...

Living at Risk: The Sibling's Perspective of Early‐Onset Alzheimer's Disease

Early-onset Alzheimer's disease (EOAD) is an increasingly diagnosed condition and is associated with genetic risk factors. This is one of the first studies exploring the lived experience of siblings of individuals with EOAD. We used structured questionnaires and semi-structured interviews to assess a broad range of siblings' experiences with and beliefs about EOAD, including knowledge, perceptions of personal risk, level of worry, and effects on life decisions. Participants (n = 24) were predominantly female (62.5%) and middle-aged (mean = 56.8 years; range 37-83). When asked about risk factors, genetics was cited most frequently (62.5%). Several potential means of reducing AD risk were endorsed, with 54% reporting engagement in behaviors for this purpose (e.g., keeping mentally active). Participants ranged widely in their perceived personal risk of AD (range: 0-100; mean = 35.6%), with higher perceived risk associated with worry about AD (p < 0.01). Understanding siblings' experiences with EOAD can inform how genetic counselors and healthcare professionals work with this population to facilitate risk communication and decision-making about testing and healthcare.

Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients’ views

Objectives To explore genetics professionals’ and patients’ views about which outcome domains are most appropriate to measure the patient benefits of using a clinical genetics service. Methods A postal Delphi survey was sent to: 115 consultant geneticists; 162 genetic counsellors; 156 support group representatives; 106 patients. The survey contained 19 outcome domains and respondents assessed the usefulness of each for clinical genetics services. Results The final professional panel comprised 115 genetics healthcare professionals and the patient panel comprised 72 patients. The outcome domains that achieved consensus (at least 75% of panel rated ‘useful’) for the patient and professional panels were: decision-making; knowledge of the genetic condition; perceived personal control; risk perception; satisfaction; meeting expectations; ability to cope; diagnosis accuracy; quality of life. Comparison of the ratings between the professional panel and the patient panel showed there was no statistical difference ( χ 2, p < 0.01) between the ratings (‘useful’ compared to ‘not useful’) for 14 of the 19 outcome domains but found differences for the perceived usefulness of: level of depression; health status; spiritual well-being; test accuracy; rate of termination. Conclusions This Delphi survey identified nine outcome domains which are good starting points to develop a core set of outcome measures for evaluating clinical genetics services.

Should Genetic Health Care Providers Attempt to Influence Reproductive Outcome Using Directive Counseling Techniques? A Public Health Prospective

ABSTRACT Many areas of agreement exist among genetic health care (GHC) professionals (i.e., MD and PhD clinical geneticists, master's level genetic counselors, and others) and public health (PH) professionals. However, there are in our opinion at least two areas or tenets where a distinct difference of opinion exists. Two tenets widely expressed by prenatal GHC professionals are: (1) they should never attempt to influence the outcome of a pregnancy, and (2) they should only use non-directive genetic counseling techniques. From a PH perspective, these tenets could be viewed in some instances as counterproductive and contrary to a major goal of PH (i.e., to improve the health and well-being of all residents, including newborns). For example, PH's message regarding fetal alcohol syndrome (FAS) prevention is clear: If you are pregnant, don't drink; and if you drink, don't get pregnant. PH's message regarding neural tube defect (NTD) prevention is equally clear: all women of childbearing age who are capable of becoming pregnant should consume 0.4 mg of folic acid daily to reduce the risk of NTDs. In the past, issues such as eugenics, abortion of affected fetuses, and a lack of methods for the primary prevention of birth defects and genetic disorders have caused GHC providers to perform genetic counseling according to the two tenets mentioned above. Clearly, there are no moral or ethical reasons why children who are at risk for FAS, NTDs, fetal rubella syndrome, or many other conditions should not have the opportunity to be born healthy. Also, we know of no laws that prohibit providers from telling a woman to do something to improve her baby's chance of being born healthy. In our opinion, it is time for prenatal GHC professionals to re-examine the two tenets noted above on a case-by-case basis to determine when it is appropriate to use directive counseling techniques to improve reproductive outcomes in accordance with the goals of PH. A framework is provided here that could serve as: (1) a guide for future discussions dealing with these issues, and (2) a method to ensure that prenatal GHC policy and practice regarding these issues conform with one another.