Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example

Abstract

In Sotos syndrome, detecting the mutation is valuable for the patient/family, while the value of a negative result is less clear and other differential diagnostic diagnoses should be considered. For successful translation of the research-based test into routine diagnostics, intense collaboration between clinicians, researchers, and diagnostic laboratory personnel is essential.

Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature

“…Different programs were also offered to the pediatric population for disorders included in the newborn screening panel (cystic fibrosis -CF, phenylketonuria, galactosemia, hearing loss, etc.) (Table 3), Sotos syndrome (Pohjola et al, 2012), hereditary retinal diseases (Henriksson et al, 2004; Morad et al, 2007; Hamblion et al, 2012), developmental disabilities (Donnai and Elles, 2001; Moeschler et al, 2009) and more. Patient ethnicity was reported in 44 genetic programs and comprised all ethnic groups/races (e.g., Caucasians, Ashkenazi Jews, Hispanic, African-Americans, Asians) (Table 3).…”

“…Among medical HCPs, genetic testing was initiated principally by medical geneticists (Table 3); other medical specialists (e.g., pediatricians, surgeons, clinicians engaged in screening programs, etc. ); and GPs (Heath et al, 2001; Hopwood et al, 2003; Berkenstadt et al, 2007; Washington State Department of Health, 2008; Gu and Warren, 2009; Metcalfe et al, 2009; Shields et al, 2010; Aarden et al, 2011; Hoppe, 2011; Pohjola et al, 2012; Pujol et al, 2013). Genetic testing was also initiated by non-medical HCPs such as genetic counselors, genetic specialist nurses, trained genetic service staff, midwives and counselors not qualified in genetics.…”

“…Evidence of efficacy and effectiveness (i.e., guidelines and recommendations of scientific societies, health economic evaluations, feasibility studies) were reported for numerous genetic programs (Table 5). The cost-effectiveness of the interventions was reported for nine genetic programs (Gulzar et al, 2007; Morad et al, 2007; Thuret et al, 2010; Kaufmann et al, 2011; Bell et al, 2014, 2015; Vickery et al, 2014; Kirke et al, 2015) and a feasibility analysis, intended as an evaluation of a proposed project to determine if it is technically and economically feasible, was reported for 11 programs (Holloway et al, 2004; Gronwald et al, 2006; Reis et al, 2006; Westwood et al, 2006; Moeschler et al, 2009; Streetly et al, 2009; Kaufmann et al, 2011; Evans et al, 2012; Pohjola et al, 2012; Bell et al, 2015).…”