Genetic registers

Genetic registers have been in use in the UK for about 30 years
and most genetic centres operate some type of register for
specified disorders. In some cases the register functions as a
reference list of cases for diagnostic information, but generally
the system is used to facilitate patient management.
Ascertainment of cases is usually through referrals made to the
genetic centre. Less often there is an attempt to actively
ascertain all affected cases within a given population. To
function effectively most registers contain information about
relatives at risk as well as affected individuals and may contain
information from genetic test results. Establishment of a
register enables long-term follow up of family members. This is
important for children at risk who may not need counselling
and investigation for many years. A unique aspect of a family
based genetic register is that it includes clinically unaffected
individuals who may require continued surveillance and
enables continued contact with couples at risk of transmitting
disorders to their children.