Table 3 Framework for the SOA exam.
From: The European Certificate in Medical Genetics and Genomics (ECMGG)
Application of genetic principals | |
A | Penetrance and variable expression |
B | Variant classification and interpretation in the clinical setting |
C | Anticipation and triplet repeat diseases |
D | Risk assessment, epidemiology, population genetics and multifactorial |
E | Difficult inheritance: mitochondrial inheritance, imprinting effects |
F | Incidental findings |
G | Interpretation of pedigree information |
H | Limitations of specific testing methods |
I | Genetic mechanisms: dominant negative effects, two-hit hypothesis, oncogenes |
J | Syndromic vs. Non-syndromic symptoms – stepwise clinical evaluation |
Clinical, Ethical and Legal aspects | |
a | Prenatal testing issues |
b | Preimplantation diagnostics (PGT) |
c | Predictive testing in children |
d | Predictive testing in adults |
e | Commercial testing |
f | Community testing |
g | GDPR and confidentiality |
h | Financial aspects and insurance related topics |
i | Future implications |
j | Informed consent |
k | Treatment of genetic diseases |
Clinical communication and counselling skills | |
I | Communication with the general practitioner |
II | Communication with another specialist |
III | Communication with patients |
IV | Communication with parents |
V | Communication with siblings |
VI | Communication with distant relatives |
VII | Communication with (adult) children |
VIII | Communication with laboratory |