Genetic registers in clinical practice: a survey of UK clinical geneticists

[...]the use of genetic registers for family follow up at predetermined times has been advocated to inform younger family members of their genetic risks when they reach maturity 3 4 or to carry out interval screening for complications of genetic disorders, such as in Marfan syndrome 7 or the familial cancers. 8 Discussion with colleagues suggested that a diversity of practice in the use of genetic registers in different UK genetic centres has arisen, perhaps because of differing funding priorities. Disease No of centres Huntington's disease 14 Familial cancers 12 Muscular dystrophies 11 Fragile X syndrome 4 Marfan syndrome 3 Neurofibromatosis 2 Adult polycystic kidney disease 2 Chromosome translocations 1 Other 2 For the overwhelming majority of clinical geneticists responding to our questionnaire, the primary purpose of a genetic register was to facilitate patient management (Emery's "clinical and therapeutic role"), although one out of 52 thought a register should be regarded only as a research tool.\n Care must be taken to ensure the accuracy of data recorded. 2 Which family members should be recorded on the genetic register (a) Adults and children affected by disorders with a genetic aetiology. (b) Adults at risk of developing a genetic disorder or its complications. (c) Children at risk of developing a genetic disorder or its complications. (d) Adults who are at risk of transmitting a genetic disorder to their children (eg a carrier of an autosomal or X linked recessive disorder or of a balanced chromosome rearrangement). (e) Children who are at risk of transmitting a genetic disorder to their children (eg a carrier of an autosomal or X linked recessive disorder or of a balanced chromosome rearrangement).