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In addition, it is important to provide genetic counselling to patients and their families to help them understand the medical, psychological and familial implications of this disease; educate them about management, inheritance, prevention, testing and identification of reliable sources of information and products; and support adherence to a lifelong GFD regimen [ 46].
Genetic counseling was born out of the need and desire to help those patients "understand and adapt to the medical, psychological and familial implications of genetic contributions to disease," according to the U.S. National Society of Genetic Counselors NSGCC).
Some issues were raised by the familial implications of genetic conditions.
Of note, sporadic mutations in GATA2 are described and may have no familial implications as described below.
When investigating POI, after obtaining informed consent, it is important to perform karyotyping and to screen for FMR1 and NR5A1 mutations as both have serious familial implications.
Genetic counseling is 'the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease' [ 1].
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Whether traits are familial has methodological implications for researchers utilizing phenotypic information in the search for autism susceptibility genes [Bailey & Parr, 2003].
The results of this population-based study on medically diagnosed tumours show site-, proband- and age-specific risks for familial tumours, with implications for clinical genetic counselling and identification of the underlying genes.
A recent breakthrough in our understanding of the pathogenesis of NB is the identification of activating point mutations in the tyrosine kinase domain of the ALK gene as the main cause of familial NB, and implication of these mutations in a substantial fraction of sporadic NB tumors [ 59- 63].
Finding the causative mutation in familial CRC also has implications that apply to genetic counseling practices that are of critical importance for the analyzed family.
The impact of thrombophilia testing may be much slighter than in testing for Huntington's disease, but the classical principle of guaranteeing patient's consent and informing them of the possible familial, psychological and social implications of genetic testing remains of importance.
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