25 July 2011
ByAppeared in BioNews 617
BBC3, Thursday 14 July 2011
Featuring Josie Bellerby
This documentary forms part of a BBC Three series 'Extraordinary Me', which follows the lives of young people with incredible stories to tell. This episode follows Josie and her family through the trials and tribulations of genetic testing.
Josie Bellerby, a confident and articulate 18-year-old drama student, faces the harrowing decision whether to test her genes for an elevated risk of breast cancer. Lucy Bellerby (23) - Josie's oldest sister - has decided she is ready to take the test while middle sister Emma (21) is still unsure (having started - and stopped - the process at around 17).
Josie's mother Julia was a pioneer in undergoing genetic testing. Julia's mother, grandmother and great grandmother all died from breast cancer, Julia was among the first to be tested and have a double mastectomy. Her journey 14 years ago was captured in a documentary called 'Deadly Inheritance'.
Lucy meets with a genetic counsellor who talks her through the implications of testing and need to be emotionally ready for the results. The counsellor also explains that gene affected is called BRCA1, which - when working properly - helps protect from cancer. This gene alteration was described like a spelling mistake, which your body misreads, causing cancer. Women with the alteration have a 60-80 percent chance of developing breast cancer and 20-40 percent chance of developing ovarian cancer.
Josie visits the Yorkshire Regional DNA Lab in Leeds where she is shown the genetic alteration of her mother's BRCA1 gene - five simple deletions. Josie realises that a slight genetic alteration can have huge effects on the body.
Julia - like Josie - has two other sisters and Josie explores the effect of genetic testing on all of them. Josie's aunt and godmother Rosie was found to have the BRCA1 gene alteration. She had four children in quick concession and then a double mastectomy and hysterectomy. Josie's aunt Caroline did not have the gene alteration, which seemed to cause a rift between her and her siblings. She describes it as feeling like she 'fell out of the loop'.
Josie meets and discusses the implications of testing and treatment with numerous affected people. The wide range of views is clear, but what is most poignant was there seemed to be no 'right' answer.
Josie and her family meet Emma Webster (21) who has a fault in her BRCA2 gene: her mum died of breast cancer. She discussed the implication of her BRCA2 fault on her relationships: one man she dated found it difficult to deal with the implications. This had a profound effect on Lucy. Josie's boyfriend Gav was supportive of whatever decision Josie made.
The effect of having the cancer gene and the effect of having a double mastectomy was discussed in length. Josie at the beginning of the documentary said: 'I only just got my boobs I don't want get rid of them'. Josie meets mother and daughter, Wendy and Becky who set up the UK's National Hereditary Breast Cancer Helpline.
Wendy was among the first to have a double mastectomy and there was little in the way of reconstruction, but Becky was extremely happy with her reconstruction after her double mastectomy. Josie talked about her fears of being left with scars or not feeling feminine if she had surgery.
Josie also explored new treatment options with Professor Gareth Evans of the Genesis Prevention Centre near Manchester - Europe's first purpose-built breast cancer prevention centre. Professor Evans talked about using Tamoxifen to reduce the development of cancer by 40 percent if taken during a five year period. He also discussed research on using experimental drugs called PARP Inhibitors to kill cancer cells while leaving healthy cells relatively unaffected.
The most interesting part of the documentary for me was how it showed the impact of genetic testing on an entire family. Lucy being tested had an impact on Emma and Josie. This was especially evident when Lucy was found to have the gene alteration. Josie decided she too would be tested in the next year or so, and Emma restarted the process of being tested.
Julia's reaction to the testing and results was guilt. She was clearly distressed to watch her daughters repeat her experience while knowing genes they inherited from her had given them this 'cancer curse'.
The documentary is moving and powerful - it shows the many emotional and complicated views of patients on testing. The documentary mirrors Julia's 1997 documentary to provide a powerful reminder of the generational effect of inherited cancer. It also allows the viewer to see the changes and development in genetic testing and cancer treatment over the last 14 years.