The field of genetic testing for inherited diseases has made significant progress in recent years. However, the experience remains complex and stressful for families. Located at the Department of Clinical Genetics at Children’s Hospital Ireland (CHI), consultant clinical geneticists like Prof Andrew Green and Dr Lisa Bradley, and genetic counsellors such as Tara Clark and Karen Pierpoint, help families deal with identifying inherited conditions. Families are supported and counseled before they undergo genetic testing, with Pierpoint emphasizing the need for mental health support before testing.
More than 20 to 30 percent of children test positively for genetic disorders. With great advances made in testing for cystic fibrosis, screening is now available to most newborns. However, Ireland doesn’t offer publicly funded screening for chromosomal abnormalities. Though the current Irish legislation on abortion permits the procedure for up to 12 weeks of pregnancy except in cases of fatal fetal abnormalities, pregnant women who receive genetic results identifying abnormalities in the fetus still travel to the UK for a termination.
Although genetic testing is more mainstream, there is still concern among consultants that are not genetic specialists sending genetic testing to labs. This may result in inaccurate test results or misinterpretation of test results. This concern highlights the need for a centralized laboratory to deal with all testing. Electronic recording of genetic testing results is also advocated by consultants and counsellors, who believe that electronic health records could improve genetic services for families in Ireland.
