To Test or NOT to Test? Fragile X Premutation Analysis in Minors- Ethical and Medical Dilemmas and Considerations
Knowledge in regards to the Fragile X status of a child or a teenager might be actionable for the primary care physician and may influence parental attitudes. Minors in families at risk could be tested to benefice from more focused treatment of related impairments- such as learning disabilities, ADHD, ASD or other neuropsychiatric difficulties. On the other hand, physicians may have concerns that carrying a genetic disorder may have a negative impact in terms of emotional burden, social and insurance implications.
Objectives: Main aim was to assess Israeli medical personnel's attitudes in regards to testing Fragile X premutation status in minors. As a secondary aim we probed the knowledge in regards to premutation symptoms. A third aim was to promote knowledge and awareness.
Methods: We used an on- line 10 questions query (SurveyMonkey), including anonymous background information, knowledge and experience with Fragile X families and attitudes towards testing minors.
Results: To date 78 practitioners completed the study of which more than a half had more than twenty years in practice and 20% cared for 5-10 families with Fragile X and 18% for more than ten. 82% of practitioners answered that they would consider testing Fragile X in minors and 13% would test in girls only. In regards to the symptom list, more than 20% confused between symptoms related to permutation and full mutation, mainly in regards to fertility, intellectual impairment, autism and dysmorphic features.
The permutation phenotype is not well recognized. However, most practitioners would test in minors, mainly if full mutation phenotype is present.
We suggest to individualize the decision in regards to testing carrier status in minors sibblings of affected children and to discuss the different options with the parents, while differentiating between general screening for non specific phenotype such as anxiety or ADHD, to permutation carriers with a family member with Fragile X Syndrome. Awareness of the risks and incidence of the various possible manifestations linked to the permutation status are mandatory for advising patients and their families.