Remember your long lost aunt?
The mere suspicion that you might have one of the genes associated with a health risk factor now makes you a target for screening and government monitoring.
Health authorities in the UK announced the first national testing program that calls for anyone suspected of possibly having a gene associated with familial hypercholesterolemia to submit to blood tests. It also plans to institute a national surveillance system to identify suspected individuals.
Positive results will be used to identify people for counseling about leading a healthy lifestyle and for prescription statins, said Dr. David Sullivan, president of the Australian Atherosclerosis Society, who is recommending the program for Australia, too.
It’s all part of the new guidance, “Identification and management of familial hypercholesterolemia” issued on Wednesday by the National Institute for Health and Clinical Excellence (NICE) in the UK, defining the contractual responsibilities for doctors with the National Health Service. As reported in the Times, Dr. Dermot Neely, a consultant at the Royal Victoria Infirmary in Newcastle, said that the new guidance would mean that, in the future, there would be no excuses for GPs to not treat these patients ‘properly’.
According to the NICE Scope statement released earlier this month, the new guidelines support the implementation of an updated National Service Framework. They call for methods to identify people with FH using “opportunistic screening and cascade screening of the relatives of people identified as having FH.” While diagnosis currently involves blood lipid tests, it said, “DNA-based testing may play a greater role in the identification and management of FH in the future.”
More specifically, the Guidance states anyone with a family history of heart disease should be tested for this very rare condition, and all children with one parent affected with FH should have a DNA test for the family mutation and blood tests for LDL-cholesterol by the age of ten years. Subsequently, cascade testing using DNA tests and LDL-cholesterol measurements should be done on all biological relatives, including the first, second and, when possible, third-generations.
The use of a national surveillance system is recommended to enable a “comprehensive identification of people affected by FH.” Thereafter, every person identified with FH would receive regular, structured reviews at least annually.
Just imagine: Your aunt has high cholesterol and you and your entire family are flagged by government health officials for testing.
According to NICE, specific interventions in the management of FH in children and adults will first consider: “Pharmacological interventions to modify blood lipids, used singly and, where appropriate, in combination.” Those include statins, exetimibe, fibrates, anion-exchange resins, fish oils and nicotinic acid. “Lipid-modifying drug therapy for a child or young person with FH should usually be considered by the age of 10 years... healthcare professionals should inform the child/young person and their parent/carer that this treatment should be lifelong.”
According to Dr. Neely, statins taken for a lifetime can lower risk for heart disease to normal levels and save thousands of lives. “We may need to start treating in childhood,” he told the Times.
The grave concerns with these presumptions are that while statins and other cholesterol-lowering drugs may lower cholesterol, there is no evidence that they might offer benefits in improving health outcomes when started in childhood. Nor have any studies demonstrated the effectiveness of cholesterol-lowering for the primary prevention of cardiovascular disease, which is the reason for starting them in young people. More worrisome, no one knows what the risks are for young people taking these drugs for life because all the research to date has been small, short-term studies. The safety and effectiveness for cholesterol-lowering drugs in pediatric patients have not been established, according to the U.S. Food and Drug Administration.
The new NICE guidance, along with prescription medications, recommends all identified people be advised to make lifestyle modifications — diet, exercise and smoking cessation — for the primary prevention of heart disease. “Healthcare professionals should offer people with FH who are overweight or obese appropriate advice and support to achieve and maintain a healthy weight in line with NICE guidance on obesity,” the guidelines added.
Of course, the flaws in these aspects of the guidance are that FH is a genetic condition and not caused by or cured with lifestyle modification or weight loss. Nor have such behavioral changes been shown to reduce cardiovascular or all-cause mortality.
Not everyone supports broad DNA testing. Molecular geneticist Professor Ron Trent from the University of Sydney was reported by the Australian Broadcasting Corporation as saying “some people may not want a DNA test.” Not everyone wants to know they could be at risk of getting a disease. Professor Trent added that screening is difficult because every family has a unique mutation in the affected gene that would have to be identified. It’s not as clear cut as the public might believe. He also cautioned that there should be safeguards put in place first, to ensure against genetic discrimination.
As professor David Weisbrot of the Australian Law Reform Commission said when speaking on disability discrimination, we don’t want to create “a genetic underclass” in Australia. He said it’s important people are employed on their ability to do a job, not on some possibility that the person might develop a condition in future.
The extensive list of stakeholders who helped develop the new NICE guidelines are below.