As a junior doctor, it can be difficult to find time for a detailed family history — especially during a busy clinic or on-call shift. Here’s a quick framework to help you efficiently gather the most relevant information for a genetic family history.

Step 1: Open with a Broad, Non-Threatening Question

Ease into the conversation with open questions:

• Do any health conditions run in your family?
• Have any relatives had serious illnesses, needed surgery, or died young?

This sets a comfortable tone and invites patients to share important information without feeling overwhelmed.

Step 2: Work through Three Generations

See an example pedigree above

Focus on the patient’s relatives in tiers:

• First-degree relatives: Children, parents, siblings,
• Second-degree relatives: Grandparents, aunts/uncles, nieces/nephews
• Third-degree relatives (if time permits): Cousins, great-grandparents

For each relative, aim to gather:

• Age (or age at death)
• Diagnoses and approximate age of onset
• Cause of death, if relevant
• Pregnancy outcomes for maternal relatives

Step 3: Look for Red Flags

Watch out for any clues that might suggest a genetic condition, such as:

• Diagnoses before age 50 (especially cancer, cardiac disease, or dementia)
• Multiple relatives with the same condition or similar features
• Known genetic conditions (e.g. BRCA mutations, Huntington’s disease, Marfan syndrome)
• Consanguinity (parents related)
• Multiple miscarriages or stillbirths
• Congenital anomalies or developmental delays in children

If any red flags appear, consider whether a referral to Clinical Genetics is warranted.

Step 4: Record and Summarise

Write a concise summary in the patient notes or electronic health record.

For each key person, record the following under their pedigree symbol:

• First name and surname
• Date of birth (DOBs are preferable to current ages or estimates)
• Relevant symptoms and/or diagnoses, including age at diagnosis (if known)
• Cause of death and age at death (if known)

Depending on the medical condition, you might also want to include:

• Pregnancy and birth history
• Occupational or environmental exposures

Standard Symbols

• Here are the key standard symbols used in a pedigree

Top Tip: Always document who provided the history and the date.

References

1. Taking and recording a family history – The British Society for Genetic Medicine
2. Taking and drawing a family history – Genomics Education Programme

Written By Isra Khalil (FY2)

Edited By Dr Charlotte Sherlaw-Sturrock (Clinical Genetics ST5)