Clinical Genetics

Safina has been referred to breast clinic and she has been looking further into her family history.

My aunt (mother’s sister) died of cancer in her 50s but was very private about the diagnosis, I had thought it was stomach cancer, well somewhere in the stomach. I have now got hold of my aunt’s death certificate and was shocked to find it said that ‘Ovarian Carcinomatosis’ was the cause of her death.

The breast team re-assess her family as high risk and recommend that her sister seeks referral to Clinical Genetics services as she is likely to be eligible for genomic testing. Safina then comes to see you to ask why she hasn’t been referred herself.

Why do you think that may be? What information could you give regarding her sister’s referral to clinical genetics?

There are now nationally standardised testing criteria for genomic testing, within the National Genomic Test Directory in England and Wales. If someone is the first person in the family to be offered testing, and they are affected with cancer, this is termed ‘diagnostic’ testing. There are several levels, or types of genomic tests depending, but first, we need to define what we mean by genomics.

Genomics and Genomic Medicine are defined in the RCGP toolkit

This RCGP Infographic explains WGS (whole genome sequencing), WES (whole exome sequencing), Cancer Panel testing and single-gene testing.

You can find more in-depth resources exploring genomics and genomic medicine linked from What is genomics? from Health Education England’s Genomics Education Programme.

Her sister would be eligible for genomic testing, under the current testing criteria she could be offered the Familial Breast Cancer Gene Panel: BRCA1, BRCA2, and PALB2 genes.

Prior to any genomic testing, patients should receive counseling regarding the testing, the potential outcomes, and implications for them and their families. Within Clinical Genomics Services this would be delivered generally by either Genetic Counsellors or Clinical Geneticists depending on the clinical scenario.