Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort. / Hammer-Hansen, Sophia; Stoltze, Ulrik; Bartels, Emil; Hansen, Thomas van Overeem; Byrjalsen, Anna; Tybjærg-Hansen, Anne; Juul, Klaus; Schmiegelow, Kjeld; Tfelt, Jacob; Bundgaard, Henning; Wadt, Karin; Diness, Birgitte Rode.
I: European Journal of Human Genetics, Bind 32, Nr. 7, 2024, s. 846-857.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
AU - Hammer-Hansen, Sophia
AU - Stoltze, Ulrik
AU - Bartels, Emil
AU - Hansen, Thomas van Overeem
AU - Byrjalsen, Anna
AU - Tybjærg-Hansen, Anne
AU - Juul, Klaus
AU - Schmiegelow, Kjeld
AU - Tfelt, Jacob
AU - Bundgaard, Henning
AU - Wadt, Karin
AU - Diness, Birgitte Rode
N1 - Publisher Copyright: © The Author(s) 2024.
PY - 2024
Y1 - 2024
N2 - The care for patients with serious conditions is increasingly guided by genomic medicine, and genomic medicine may equally transform care for healthy individual if genomic population screening is implemented. This study examines the medical impact of opportunistic genomic screening (OGS) in a cohort of patients undergoing comprehensive genomic germline DNA testing for childhood cancer, including the impact on their relatives. Medical actionability and uptake after cascade testing in the period following disclosure of OGS results was quantified. A secondary finding was reported to 19/595 (3.2%) probands primarily in genes related to cardiovascular and lipid disorders. After a mean follow up time of 1.6 years (Interquartile range (IQR): 0.57-1.92 yrs.) only 12 (63%) of these variants were found to be medically actionable. Clinical follow up or treatment was planned in 16 relatives, and as in the probands, the prescribed treatment was primarily betablockers or cholesterol lowering therapy. No invasive procedures or implantation of medical devices were performed in probands or relatives, and no reproductive counseling was requested. After an average of 1.6 years of follow-up 2.25 relatives per family with an actionable finding had been tested. This real-world experience of OGS grants new insight into the practical implementation effects and derived health care demands of genotype-first screening. The resulting health care effect and impact on demand for genetic counseling and workup in relatives extends beyond the effect in the probands.
AB - The care for patients with serious conditions is increasingly guided by genomic medicine, and genomic medicine may equally transform care for healthy individual if genomic population screening is implemented. This study examines the medical impact of opportunistic genomic screening (OGS) in a cohort of patients undergoing comprehensive genomic germline DNA testing for childhood cancer, including the impact on their relatives. Medical actionability and uptake after cascade testing in the period following disclosure of OGS results was quantified. A secondary finding was reported to 19/595 (3.2%) probands primarily in genes related to cardiovascular and lipid disorders. After a mean follow up time of 1.6 years (Interquartile range (IQR): 0.57-1.92 yrs.) only 12 (63%) of these variants were found to be medically actionable. Clinical follow up or treatment was planned in 16 relatives, and as in the probands, the prescribed treatment was primarily betablockers or cholesterol lowering therapy. No invasive procedures or implantation of medical devices were performed in probands or relatives, and no reproductive counseling was requested. After an average of 1.6 years of follow-up 2.25 relatives per family with an actionable finding had been tested. This real-world experience of OGS grants new insight into the practical implementation effects and derived health care demands of genotype-first screening. The resulting health care effect and impact on demand for genetic counseling and workup in relatives extends beyond the effect in the probands.
U2 - 10.1038/s41431-024-01618-7
DO - 10.1038/s41431-024-01618-7
M3 - Journal article
C2 - 38740897
AN - SCOPUS:85192809492
VL - 32
SP - 846
EP - 857
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 7
ER -
ID: 393268463