The Cardiac Genetics Clinic – a model for multidisciplinary genomic medicine

Abstract

679Sudden cardiac death from genetic heart disease: psychological impact to the surviving at-risk family members

PALB2: research reaching to clinical outcomes for women with breast cancer

“…The uptake of gene panel tests has been rapid and included a volume of successful direct-to-the-public marketing. In some areas of clinical genetics, panel testing is now the standard of care [ 1 ]. With some important caveats and considerations discussed in this review, current data suggests that gene panel testing offers breast cancer clinical genetics practice increased opportunity to identify “actionable” genetic variants in a greater proportion of women [ 2 – 4 ].…”

A multidisciplinary renal genetics clinic improves patient diagnosis

“…Developments in genomic science are disproportionately in advance of their translational clinical application. Multidisciplinary clinics are proposed to overcome this 1 in many medical fields 2 . This is especially so in nephrology, which is typified by significant community disease burden 3 and heritability 4 .…”

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

“…Thirty‐six potentially relevant papers were identified and read in full‐text (Figure 1). Only six peer‐reviewed papers (Bradley & Bowdin, 2016; Strider et al, 1996; Summers et al, 2006; von Kodolitsch et al, 2016; Wright et al, 2016; Zentner et al, 2015) and two conference abstracts (Andvik et al, 2011; McLean, 2012) met the eligibility criteria and were included in this review (Table 1). Excluded articles with reasons for exclusion are presented in Table S1.…”

“…Excluded articles with reasons for exclusion are presented in Table S1. The included peer‐reviewed papers comprised a prospective study (Strider et al, 1996), one case series (Summers et al, 2006), one retrospective chart review (Zentner et al, 2015), one innovation report (Wright et al, 2016) and two narrative reviews/ expert experiences (Bradley & Bowdin, 2016; von Kodolitsch et al, 2016). Four studies (Andvik et al, 2011; Strider et al, 1996; Summers et al, 2006; Zentner et al, 2015) reported patient data on a total of 771 patients with MFS and other HTADs.…”

“…In the study by Wright et al, patients reported high levels of satisfaction with the multidisciplinary approach (Wright et al, 2016). As Zentner et al stated, there seems to be need for more research to evaluate patient outcomes and cost-effectiveness of aortopathy clinics (Zentner et al, 2015).…”