Patient cohort
During a two-year period (2018-2019), 162 patients with a clinically suspected genetic condition were referred to our laboratory for WES. The cohort comprised of 57 children <5 years old (35.2%), 74 adolescents (5-18 years) (45.7%) and 31 adults (19.1%). Males (n=83) and females (n=79) were equally represented and within all age groups. The primary reasons for referral, included neurodevelopmental abnormalities (developmental delay, intellectual disability, growth deficiency etc.) and concerned 47 cases (29%). Twenty-nine cases (18%) were referred for skeletal & connective tissue abnormalities, and 24 cases (15%) for congenital anomalies/syndromic features (Figure 1). The remaining 62 cases were referred for various reasons as presented in Figure 1 where “others” comprise of patients with endocrine, immune, sex or hematological abnormalities and a germline tumor case. Nine (out of 162) patients had a negative result with array-CGH analysis prior to WES.
In Greece, the cost of WES is not reimbursed by the Greek National Health System or private insurance companies. To minimize the expense for the patients and their families, WES was offered only for the probands, followed by targeted Sanger sequencing of parental/familial samples as and when appropriate for the evaluation of family segregation for likely pathogenic and causative variants.
Written informed consent prior to all tests were provided by the patients and/or their parents/legal guardians after extensive clinical evaluation and counseling by relevant medical specialists (Clinical Geneticists, Pediatricians, Neurologists, Cardiologists and others). All samples were given a unique patient code and all data was processed and stored according to the guidelines of the General Data Protection Regulation (GDPR).