The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Zentner, Dominica; Thompson, T.; James, Paul; Trainer, Alison H.; Adès, Lesley C.; Macciocca, Ivan; Taylor, Jessica Averitt; Mann, Kirsty; Bogwitz, Michael; Lewis, Nigel; Morgan, Natalie; Vohra, Jitendra K.; Winship, Ingrid

doi:10.5694/mja14.01674

Cited by 18 publications

(2 citation statements)

References 14 publications

(23 reference statements)

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“…The notion of multidisciplinary clinics was successfully implemented in other fields of medicine as well. Zentner et al have described their multidisciplinary cardiac genetics clinic over 6 years of follow-up (Zentner et al 2015). A total of 1170 patients were seen; genetic tests were obtained from 32.6% of the patients.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic yield and recognized barriers of an adult neurogenetics clinic

2021

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The advent of molecular genetic technologies paved a path for the diagnosis of many neurological disorders. Joint evaluation by a neurologist and a medical genetics specialist can potentially increase diagnostic effectiveness by ensuring the exclusion of non-genetic conditions with similar phenotypes and by rationally selecting appropriate genetic diagnostic tools. Therefore, a monthly adult neurogenetics clinic was established. A retrospective review of medical records of all patients who attended the clinic from April 2015 to March 2019 was conducted. Eighty-two patients were evaluated (age: 47.1 ± 15.7, male: 37(45%), 42 (51%) had a positive family history). Disease duration was typically long (11.4 ± 0.9 years). Futile use of diagnostic modalities was very common (45 (55%) had repeated MRI, 28 (34%) hospitalized for observation in neurologic departments, 12 (14%) had a normal metabolic workup, 4 (5%) with a non-conclusive muscle biopsy, 1 with a normal cerebral angiography). Following clinical evaluation, molecular genetic testing was offered to 67 (82%) patients. In the other 15 (18%), routine workup for the exclusion of non-genetic conditions was not complete; obtainable information regarding family members was missing or that a neurogenetic disorder seemed improbable. Twenty-seven (33%) patients received a definitive diagnosis, either a genetic (23, 28%) or non-genetic (4, 5%). Excluding 4 cases of pre-symptomatic diagnosis, the diagnostic yield was 30%. The adherence to genetic testing recommendations was 62%. The reasons for non-adherence were lack of public funding for the required test (52%) and patient decision not to proceed (48%). Given the frequent futile use of diagnostic modalities, referral of non-genetic conditions with similar phenotypes among neurogenetic disorders, and the complexity of clinical genomic data analysis, a multi-disciplinary neurogenetics clinic seems justified.

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Section: Discussionmentioning

confidence: 99%

Diagnostic yield and recognized barriers of an adult neurogenetics clinic

2021

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“…Twenty-seven percent of referrals had a confirmed genetic defect; however, the study did not include trisomies 13 and 18, which would have raised the number of positive cases. A similar study on adult cardiac patients showed a yield of 47.6% [ 14 ]. Since not all patients in the cardiology clinic are screened, the figure may be higher than described in the study.…”

Section: Discussionmentioning

confidence: 98%

The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit

Elfky,

Bhat,

Almesned

et al. 2023

Cureus

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Background: Previously published studies suggest that genetic or environmental causes can be observed in 20-30% of congenital heart disease (CHD) patients, which include aneuploidy, single gene defects, pathological copy number variations, and de novo autosomal dominant and recessive inheritance. Moreover, the genetic background of childhood cardiomyopathies (CMs) has not been elucidated well.Objective: The study highlights the value of genetic assessment in diagnosing and family counseling for CHD and pediatric CM patients referred to the genetic clinic in a pediatric cardiology department.Methods: The study involved patients less than 18 years of age attending the cardiogenetic clinic in the pediatric cardiology department between December 2010 and February 2019. The following patient categories who had genetic evaluation were included: CHD in the presence of a syndromic phenotype, patients with CHD having extracardiac congenital anomalies or delayed development, hypertrophic and dilated CM patients, patients with dilated aortic root and ascending aorta, significant CHD in siblings or first-degree relatives, suspected channelopathies; and interrupted aortic arch abnormalities.Results: A total of 285 patients were evaluated in the cardiogenetic clinic. The mean age was 20.2 months, with a range of 0-168. Females and males constituted 153 (53.7%) and 132 (46.3%), respectively. The most common cause of referral to the genetic clinic was the presence of CM (N=134 (46.3%)): hypertrophic CM in 24% and dilated CM in 20% of cases. Seventy-six patients (26.7%) had positive genetic results. The most common genetic abnormality was familial infantile hypertrophic CM-causing gene ELAC2 in 19 (23.5%) cases.Conclusion: It may be beneficial for any pediatric cardiology unit to provide an established genetic clinic. Using a genetic clinic will enhance understanding of CHD pathophysiology, family education, and genetic counseling. Agreement on a well-written protocol and the way forward to specify what congenital heart conditions require genetic investigation should be clarified.

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Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

Bathen

Krohg‐Sørensen

Lidal

2020

American J of Med Genetics Pt A

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Background: International guidelines recommend hereditary thoracic aortic diseases (HTADs) to be managed in multidisciplinary aorta clinics. Aim: To study HTAD patient's experiences with a aortopathy clinic in Norway and to review the literature on aortopathy clinics. Methods: (a) A systematic scoping review of research on multidisciplinary clinics for HTADs. (b) A cross-sectional postal questionnaire study to investigate patient experiences with the health-services. Fifty consecutive patients from the aortopathy clinic and 50 controls in usual care were invited to participate. Results: The review identified eight publications on aortopathy clinics. Although the papers were not judged for quality, these showed promising results from such clinics in terms of diagnostics and increased adherence to guideline-directed therapy. The survey constituted thirty-seven (74%) patients and 22 (44%) controls who responded to postal questionnaires. Both groups reported delays in diagnostics and follow-up appointments prior to the start of the clinic. Patients indicated high satisfaction with the aortopathy clinic, whereas controls reported poor coordination of medical followup. Individuals in both groups struggled with disease self-management. Conclusion: Norwegian patient experiences found the aortopathy clinic beneficial. According to studies included in the review, disease management in aortopathy clinics may improve patient satisfaction, diagnostics and follow-up. Effect studies may further document the benefits of clinic organization, treatment, cost-efficiency and patient experiences.

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The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Cited by 18 publications

References 14 publications

Diagnostic yield and recognized barriers of an adult neurogenetics clinic

Diagnostic yield and recognized barriers of an adult neurogenetics clinic

The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit

Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway

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