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).