Day-to-Day Responsibilities
Take a detailed medical and family history to map how a condition runs through a family (pedigree analysis).
Examine patients, including children, for physical signs that point to a genetic disorder.
Decide which genetic tests are needed, such as chromosome analysis, gene panels or exome sequencing.
Interpret test reports and separate harmful variants from harmless ones, working with laboratory scientists.
Explain diagnoses, inheritance patterns and recurrence risks to patients and families in plain language.
Advise on options such as prenatal testing, carrier testing and family screening, with proper informed consent.
Write clinical letters, coordinate with other specialists and follow up with patients over time.


