New "first families": The psychosocial impact of new genetic technologies

Department of Pediatrics, Dartmouth Medical School, Hanover, New Hampshire, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 02/2012; 14(2):189-90. DOI: 10.1038/gim.2011.17
Source: PubMed
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Available from: Joanna H Fanos, Dec 09, 2015
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    • "The purpose of this exploratory qualitative study was to further investigate the interpretation and impact of genetic test results of uncertain significance in the context of pediatric chromosomal microarray analysis. A better understanding of patients' and families' perspectives on ambiguous test results and their impact on care management plans is crucial to providing effective genetic counseling services, especially as we enter the era of genomic sequencing (Ali-Khan et al. 2009; Fanos 2012; Miller et al. 2010b). "
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    ABSTRACT: Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi-structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children's health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child's condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including "VUS" and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow-up but had misconceptions about how this would occur. These results provide insight into the patient-and-family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.
    Full-text · Article · May 2015 · Journal of Genetic Counseling
    • "Disease manifestation in many of these disorders is probabilistic, sometimes with limited preventative or treatment options available to patients. This may result in signifi cant psychosocial impact and potential anxiety in patients and their families (Fanos, 2012). Despite the anxiety and uncertainty surrounding SFs, their identifi cation may be clinically useful and, in some cases, life–saving (Green et al., 2013; ACMG Board of Directors, 2013). "
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    ABSTRACT: Single nucleotide polymorphism microarrays have the ability to reveal parental consanguinity which may or may not be known to healthcare providers. Consanguinity can have significant implications for the health of patients and for individual and family psychosocial well-being. These results often present ethical and legal dilemmas that can have important ramifications. Unexpected consanguinity can be confounding to healthcare professionals who may be unprepared to handle these results or to communicate them to families or other appropriate representatives. There are few published accounts of experiences with consanguinity and SNP arrays. In this paper we discuss three cases where molecular evidence of parental incest was identified by SNP microarray. We hope to further highlight consanguinity as a potential incidental finding, how the cases were handled by the clinical team, and what resources were found to be most helpful. This paper aims to contribute further to professional discourse on incidental findings with genomic technology and how they were addressed clinically. These experiences may provide some guidance on how others can prepare for these findings and help improve practice. As genetic and genomic testing is utilized more by non-genetics providers, we also hope to inform about the importance of engaging with geneticists and genetic counselors when addressing these findings.
    No preview · Article · Nov 2013 · Journal of Genetic Counseling
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    • "The potential psychosocial repercussions of CMA have been compared to those experienced with the introduction of karyotyping and banding technologies, when the 'first families' received diagnoses for rare syndromes about which very little was known (Fanos 2012). Additional challenges are raised by whole-genome testing, which yields a relatively higher proportion of uncertain results and incidental findings, and can be difficult for providers to explain, and for families to understand. "
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    ABSTRACT: The utilization of genome-wide chromosomal microarray analysis (CMA) in pediatric clinical practice provides an opportunity to consider how genetic diagnostics is evolving, and to prepare for the clinical integration of genome-wide sequencing technologies. We conducted semi-structured interviews with 15 healthcare providers (7 genetic counselors, 4 medical geneticists, and 4 non-genetics providers) to investigate the impact of CMA on clinical practice, and implications for providers, patients and families. Interviews were analyzed qualitatively using content analysis. Most providers reported that genomic testing enhanced their professional experience and was beneficial to patients, primarily due to the improved diagnostic rate compared with earlier chromosomal studies. Other effects on practice included moving towards genotype-first diagnosis and broadening indications for chromosomal testing. Opinions varied concerning informed consent and disclosure of results. The duty to disclose incidental findings (IFs) was noted; however concerns were raised about potential psychosocial harms of disclosing pre-symptomatic findings. Tensions were revealed between the need for comprehensive informed consent for all families and the challenges of communicating time-consuming and potentially anxiety-provoking information regarding uncertain and incidental findings that may be relevant only in rare cases. Genetic counselors can play an important role in liaising with families, health professionals and testing laboratories, providing education and guidance to non-genetics providers, and enabling families to receive adequate pre-and post-test information and follow-up care.
    Full-text · Article · Sep 2013 · Journal of Genetic Counseling
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