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

  1. For each question, 1 topic is selected from each of the 3 domains.