Although Margaret’s LQTS is drug induced, initial genetic screening finds that she has a gene pre-disposing her to LQTS. Margaret and her daughters are invited to attend the Inherited Cardiac Conditions Clinic for cascade screening. Those confirmed with LQTS will be offered annual revews at the clinic.
Genetic testing can raise a number of psychological, social and ethical issues for those individuals and families involved.
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The genetic counsellor reassures Margaret and her daughters that she will be available to provide them with as much information as possible regarding any issues of concern.
One of her daughters has been found to have the LQTS gene mutation and is being referred to the Cardiology Clinic. Her other daughter has tested negative for any gene mutation.
Image of Margaret and her daughters
Fear: of dying (all); of developing LQTS (daughters); of passing on to children (daughters)
Guilt: of possibly having passed on to daughters (Margaret); of possibly having passed on to children (daughters); of not having the faulty gene when other members of the family do (daughters)
Shame: embarassment of having to tell people have genetic condition (all)
Testing: knowing at what age children should be tested (daughters); how to tell relatives (all); what to do if relatives refuse to be tested (all); confidentiality – who passes results on to at risk family members (all)
Lifestyle: worries over future pregnancies (daughters); knowing when safe to particpate in sports (daughters); changes to diet/smoking/alcohol intake (all); travel and insurance (all).
