Now Caroline’s father, Ellis Rich and her stepmother, Sue, are petitioning for new legislation – Caroline’s Law – which would enable medical professionals to inform relatives of their risk, while still retaining patient confidentiality.
Ellis and Sue Rich, who are petitioning for Caroline's Law, which would enable medical professionals to share information with patients about their risk of inheritable diseases (Photo: Ellis Rich)[Missing Credit]
In an interview on YouTube channel Octopus TV, Ellis said: “We believe the obvious thing to do is to have a register [which would contain information about several genetic diseases], which is only available to the medical profession. All that is necessary is to record the family surname. It’s amazing that there is still nothing in place to enable a genetic counsellor to look up and see if there is a familial issue going on.”
“There are so many ways that people who will not know at all [that they are a carrier]. For example, if someone has been adopted. So there has to be something in place that allows someone to find out, and they are then given a choice as to whether they want to be tested or not. [Medical professionals] have a duty of care to everybody to make the most of their chance of life.”
Caroline Saunders, who would have undergone a different course of treatment had she known about having the BRCA1 gene mutation before her diagnosis[Missing Credit]
Ellis said that had Caroline known about the BRCA1 mutation before her cancer diagnosis, she would have undergone a different course of treatment. “None of that was done and it’s just the most awful thing to think that my daughter would have survived.”
Currently, when people test positive for either the BRCA1 or BRCA2 mutation, which increases the risk of certain types of cancer, including breast and ovarian, as well as prostate and pancreatic in some cases, they are strongly advised, but not obligated, to inform relatives, who may then choose to also undergo testing. The right to patient confidentiality means that there is no mechanism in place for the medical profession to share this information with other family members without prior consent.
Caroline’s own mother died in 1986 at the age of 39 of ovarian cancer, but when Caroline sought a BRCA test on the NHS before her own diagnosis, she was told that she wasn’t eligible. “[At that time], no one seemed to have made the connection between ovarian cancer and the BRCA gene,” said Ellis.
After being diagnosed with breast cancer, Caroline was found to be a BRCA1 carrier. When she went to inform relatives of their risk, she was “horrified” to discover that BRCA had been found in the family but that she hadn’t been informed, said her father. “She was absolutely amazed [and] so horrified she hadn’t been told anything.”
In an interview with the Independent in 2005 after her diagnosis, Caroline called for a change in legislation regarding the sharing of medical information, saying that if she had known she had the BRCA1, she would have gone for regular mammograms and blood tests.
Determined that the genetic mutation wouldn’t be passed on to their own children, Caroline and her husband decided to have their children through IVF so the embryos could undergo preimplantation genetic testing (PGT).
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Caroline Saunders had a great sense of humour and chose to wear colourful wigs during chemotherapy, said her dad and step-mum (Photo: Caroline Saunders/Facebook)[Missing Credit]
Speaking to the JC about Caroline, her stepmother, Sue, said: “She made friends as she went through life, but the three people she loved the most were her husband and two daughters. She lived and breathed them. She was just a lovely, good, caring person.
“In my mind, the image I have of Caroline is in the blue wig she wore when she lost all of her hair. She didn’t buy ordinary wigs. She bought colourful ones.”
“She had a great sense of humour and a fantastic voice,” said Ellis of his daughter, who raised over £100,000 for cancer charities during her lifetime.
“Nothing I can do will bring her back, but doing something that stops other deaths would make me think she didn’t die for nothing. That’s all I can hope for.”
Professor Ranjit Manchanda, who is spearheading the NHS Jewish BRCA Testing programme, supported by Chai Cancer Care and Jnetics, told the JC: “It is really important to share information because you can save someone’s life, [but] it’s about getting the balance right between confidentiality and the benefit to someone else of knowing about the genetic mutations in their family.”
He said that if a person is found to be a carrier of an inheritable disease, some genetic testing centres ask the patient for permission to inform relatives. “I think it would be a great idea if this was a widespread approach, but it has structural and cost implications.”
However, Professor Manchanda stressed that the medical profession “needs to explore strategies to do more than we are already doing to increase testing amongst relatives”.
A spokesperson for the department of health and social care said that they were unable to comment on the issue during the pre-election period.
Click here for more information on the petition for Caroline’s Law
