PDF Notes: Lecture 1

What distinguishes a medical geneticist from a genetic counsellor?

Medical geneticists diagnose and treat genetic disorders, while genetic counsellors provide support and education about genetic conditions.

What are the roles of a medical geneticist?

They interpret genetic test results and guide patients in making informed health choices.

What are the roles of a genetic counsellor?

They help families understand the implications of genetic disorders.

What are indications for referral to a Medical Genetics Clinic?

Advanced maternal age, family history of genetic disorders, and congenital anomalies are key reasons.

How is a family pedigree used in genetic consultations?

It records family medical data to identify inheritance patterns and assess risk.

What is the purpose of baseline and specialized investigations in medical genetics?

They help confirm diagnoses through targeted testing based on clinical findings.

What happens during a typical medical genetics consultation?

It includes medical history review, clinical examination, and genetic counselling.

What is the implication of genomic medicine?

It expands medical genetics to include gene therapy and personalized medicine.

What conditions might lead to a referral for adult genetic testing?

Hereditary cancer and adult-onset neurological diseases are common reasons.

What are common pediatric indications for genetic referral?

Congenital anomalies and developmental delays are frequently assessed.