The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.
Upstream public engagement with new science and technology is considered important but challenging. This article shows how engagement events are embedded in broader institutional and cultural contexts. By studying two different cases of upstream engagement in nanotechnology, we demonstrate how existing institutional responsibilities and cultural repertoires contribute much to the productivity of actual engagement events. Insight into these wider world dynamics will help science communicators (or event organizers) foster reflection and deliberation among relevant actors about whether and how upstream public engagement can have an impact on the governance of new science and technology.
As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient experiences and preferences with regard to counselling are relatively underexplored. This article explores experiences and preferences of parents with pre-test and post-test counselling in a trial that uses WES for diagnostics. Second, it maps information and communication needs which exceed the counselling protocol, in order to acquire insight into how it can be improved. Data were gathered through in-depth interviews with parents of 15 children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to (i) the type and amount of information provided about WES research, (ii) incidental findings, (iii) communication about progress of the study, and (iv) the communication of the results. Furthermore, parents preferred to have more of a communicative exchange with health care providers about their daily struggles and concerns related to their life with a diseased child and wanted to know how a diagnosis could offer help. There are different ways to meet parental needs, but we suggest that assigning a case manager might be a helpful option that deserves further exploration.
CME/CNE Information Activity Available Online: To access the article, post-test, and evaluation online, go to http://www.cmscscholar.org. Target Audience: The target audience for this activity is physicians, physician assistants, nursing professionals, and other health care providers involved in the management of patients with multiple sclerosis (MS). Learning Objectives: Accreditation Statement: In support of improving patient care, this activity has been planned and implemented by the Consortium of Multiple Sclerosis Centers (CMSC) and Delaware Media Group. The CMSC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physician Credit The CMSC designates this journal-based activity for a maximum of 0.75 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Nurse Credit The CMSC designates this enduring material for 0.75 contact hour (none in the area of pharmacology). Disclosures: Editor in Chief of the International Journal of MS Care (IJMSC), has served as physician planner for this activity. He has disclosed relationships with Springer Publishing (royalty); Qr8 (receipt of intellectual property rights/patent holder); Abide Therapeutics, GW Pharma (consulting fee); Biogen (speakers' bureau); and Adamas Pharmaceuticals (contracted research).Francois Bethoux, MD, has served as reviewer for this activity. She has disclosed no relevant financial relationships.Laurie Scudder, DNP, NP, has disclosed no relevant financial relationships.Karine Wendrich, MSc, has disclosed a relationship with Orikami/MS sherpa BV (salary).Pim van Oirschot, MSc, has disclosed no relevant financial relationships.Marijn Bart Martens, PhD, has disclosed no relevant financial relationships.Marco Heerings, MANP, has disclosed relationships with Bayer (educational/consultancy activities) and MS sherpa BV (consulting fee).Peter Joseph Jongen, PhD, has disclosed no relevant financial relationships.Lotte Krabbenborg, PhD, One peer reviewer has disclosed relationships with Genentech (consulting fee, contracted research) and Novartis (contracted research). The other peer reviewers for IJMSC have disclosed no relevant financial relationships. The staff at IJMSC, CMSC, and Delaware Media Group who are in a position to influence content have disclosed no relevant financial relationships. Note: Financial relationships for some authors may have changed in the interval between listing these disclosures and publication of the article. Method of Participation: Release Date: December 1, 2019 Valid for Credit Through: December 1, 2020 In order to receive CME/CNE credit, participants must: Statements of Credit are awarded upon successful completion of the post-test with a passing score of >70% and the evaluation. Disclosure of Unlabeled Use: This educational activity may contain discussion of published and/or investigational uses of agents that are not approved by the FDA. CMSC and Delaware Media Group do not recommend the use of any agent outside of the labeled indications. The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of CMSC or Delaware Media Group. Disclaimer: Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any medications, diagnostic procedures, or treatments discussed in this publication should not be used by clinicians or other health-care professionals without first evaluating their patients' conditions, considering possible contraindications or risks, reviewing any applicable manufacturer's product information, and comparing any therapeutic approach with the recommendations of other authorities.
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