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Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.

ABSTRACT: Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent sudden cardiac death, cardiac monitoring and/or predictive DNA testing is advised for at-risk relatives. Probands in whom a causal variant is detected are asked to inform their relatives about the possibility of testing, often supported by a family letter. This qualitative study investigates experiences with and attitudes toward this family-mediated approach in ICCs and explores whether and how improvements can be made. Two online focus groups were conducted with 28 healthcare professionals (HCPs) from various disciplines, as were 25 face-to-face semi-structured interviews with counselees (10 probands; 15 relatives). Data were analysed by two researchers independently using a thematic approach. Participants, both HCPs and counselees, preferred that probands inform relatives about genetic risks in ICCs, but both groups struggled with the dependency on and burden on probands to inform their relatives. To overcome this, HCPs do see a more active role for themselves in informing relatives, but prefer uniformity in procedures in order to maintain their workload. Counselees, on the other hand, prefer a tailored information provision strategy adjusted to family dynamics and the personality characteristics of relatives. In conclusion, although it is generally preferred that probands inform relatives themselves, a more active role of HCPs could be considered to overcome the dependency and burden on probands. Further research is needed to study how HCPs can engage more actively in informing at-risk relatives in current clinical genetic practise.

SUBMITTER: van den Heuvel LM

PROVIDER: S-EPMC6777450 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.

van den Heuvel Lieke M LM Huisinga Mette J MJ Hoedemaekers Yvonne M YM Baas Annette F AF Plantinga Mirjam M Henneman Lidewij L van Tintelen J Peter JP Smets Ellen M A EMA Christiaans Imke I

European journal of human genetics : EJHG 20190503 9

Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent sudden cardiac death, cardiac monitoring and/or predictive DNA testing is advised for at-risk relatives. Probands in whom a causal variant is detected are asked to inform their relatives about the possibility of testing, often supported by a family letter. This qualitative study investigates experiences with and attitudes toward this family-me ...[more]

PMID: 31053782

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Project description:IntroductionGenomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature. Among the cardiac inherited abnormalities, one of the most common is Wolff-Parkinson-White syndrome. Similarly, hypertrophic cardiomyopathy is another common autosomal dominant inherited cardiac disease. Hypertrophic cardiomyopathy is associated with an increased incidence of Wolff-Parkinson-White syndrome; reports have suggested that it could be caused by a mutation in the protein-coding gene PRKAG2, which encodes a subunit of the AMP-activated protein kinase.Case presentationA 37-year-old Ecuadorian male (Subject A) with familiar history of bradycardia, cardiac pacemaker implantation, and undiagnosed cardiac conditions began with episodes of tachycardia, dizziness, shortness of breath, and a feeling of fainting. He was diagnosed with hypertrophic myocardiopathy and Wolff Parkinson White preexcitation syndrome. Furthermore, his cousin's son, an 18-year-old Ecuadorian male (Subject B), started suffering from migraine and tachycardia at any time of the day. He was diagnosed with hypertrophic myocardiopathy; his electrocardiogram showed a systolic overload. Next-generation sequencing and ancestry analyses were performed. A c.905G>A p.(Arg302Gln) mutation in the gene PRKAG2 and a mainly European composition were identified in both subjects.ConclusionGenetic testing is a valuable tool as it can provide important information regarding a disease, including its cause and consequences, not only for single individuals but to identify at-risk relatives. Furthermore, NGS results could guide the physician into targeted therapy. In the present case report, a missense pathogenic Arg302Gln mutation in the PRKAG2 gene has been identified in two related Ecuadorian Subjects diagnosed with hypertrophic myocardiopathy and Wolff-Parkinson-White. The variant has not been reported in Latin America; hence, this is the first report of the Arg302Gln mutation in the PRKAG2 gene in mestizo Ecuadorian subjects with mainly European ancestry components.

Project description:Haiti has the highest human rabies burden in the Western Hemisphere. There is no published literature describing the public's perceptions of rabies in Haiti, information that is critical to developing effective interventions and government policies. We conducted a knowledge, attitudes and practices survey of 550 community members and 116 health professionals in Pétionville, Haiti in 2013 to understand the perception of rabies in these populations. The majority of respondents (85%) knew that dogs were the primary reservoir for rabies, yet only 1% were aware that bats and mongooses could transmit rabies. Animal bites were recognized as a mechanism of rabies transmission by 77% of the population and 76% were aware that the disease could be prevented by vaccination. Of 172 persons reporting a bite, only 37% sought medical treatment. The annual bite incidence rate in respondents was 0·9%. Only 31% of bite victims reported that they started the rabies vaccination series. Only 38% of respondents reported that their dog had been vaccinated against rabies. The majority of medical professionals recognized that dogs were the main reservoir for rabies (98%), but only 28% reported bats and 14% reported mongooses as posing a risk for rabies infection. Bites were reported as a mechanism of rabies transmission by 73% of respondents; exposure to saliva was reported by 20%. Thirty-four percent of medical professionals reported they would wash a bite wound with soap and water and 2·8% specifically mentioned rabies vaccination as a component of post-bite treatment. The majority of healthcare professionals recommended some form of rabies assessment for biting animals; 68·9% recommended a 14-day observation period, 60·4% recommended a veterinary consultation, and 13·2% recommended checking the vaccination status of the animal. Fewer than 15% of healthcare professionals had ever received training on rabies prevention and 77% did not know where to go to procure rabies vaccine for bite victims. Both study populations had a high level of knowledge about the primary reservoir for rabies and the mode of transmission. However, there is a need to improve the level of knowledge regarding the importance of seeking medical care for dog bites and additional training on rabies prevention for healthcare professionals. Distribution channels for rabies vaccines should be evaluated, as the majority of healthcare providers did not know where rabies vaccines could be obtained. Canine rabies vaccination is the primary intervention for rabies control programmes, yet most owned dogs in this population were not vaccinated.

Dataset Information

Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.

Publications

Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.

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