Two separate studies this week have called for extended provision of genetic testing to close family members of those who have died from sudden unexplained death (SUD), and to asymptomatic children in families affected by genetic diseases.
By testing family members of 115 young persons whose deaths had not been explained by autopsy, researchers from the Academic Medical Centre in Amsterdam discovered inherited forms of heart disease in just under a third of the families. This finding is suggested by the study leader, Dr Christian van der Werf, to demonstrate a 'necessity for general practitioners to refer close relatives of SUD patients to a specialised cardiogenetics department as soon as possible'.
In addition to this suggestion for improvement to clinical practice he also suggested that samples from autopsies of SUD patients to be collected and brought together so as to facilitate research into this shocking and unexpected cause of death. Dr van der Werf presented his findings at the annual meeting of the European Society of Human Genetics (ESHG) conference, held in Vienna.
The second call comes from the ESHG, which recommends that apparently healthy children with high-risk family histories of genetic diseases arising in childhood should be tested for these diseases, particularly for conditions that can be treated, such as retinitis pigmentosa. The guidelines state that 'the primary reason to carry out a genetic test on a person who does not have the capacity to consent should be his or her direct benefit'. In this context, the authors suggest that even if treatment is not an option, testing can be worthwhile as it may forewarn or reassure the family, although they stress that the child's interests must come first. The guidelines go further to state that children should be given the choice of being tested for conditions that only develop later in adulthood, such as inherited breast cancer, provided they understand the implications of the test. In some cases this may offer the chance to modify their lifestyle so as to reduce the risk of developing the condition. The ESHG's full recommendations on 'Genetic testing in asymptomatic minors' are published in the European Journal of Human Genetics.