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Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Author(s) -
Shah Margit,
Selvanathan Arthavan,
Baynam Gareth,
Berman Yemima,
Boughtwood Tiffany,
Freckmann MaryLouise,
Parasivam Gayathri,
White Susan M,
Roberts Natalie J,
Kirk Edwin P,
Ma Alan SL,
Sachdev Rani
Publication year - 2022
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.15703
Subject(s) - medicine , genetic testing , pediatrics , genomic information , anxiety , genetic counseling , diagnostic test , intensive care medicine , psychiatry , genetics , genome , biology , gene
Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines. This can place an increased burden on paediatricians, who may now be responsible for interpreting and explaining test results to patients. However, genomic results can be complex, and sometimes inconclusive for the ordering paediatrician. Results may also cause uncertainty and anxiety for patients and their families. The paediatrician's genetic literacy and knowledge of genetic principles are therefore critical to inform discussions with families and guide ongoing patient care. Here, we present four hypothetical case vignettes where genomic testing is undertaken, and discuss possible results and their implications for paediatricians and families. We also provide a list of key terms for paediatricians.