Publications by authors named "W A G van Zelst-Stams"
Article Synopsis
- Genetic alterations play a crucial role in cancer development, highlighting the need for effective genetic counselling to support patient decision-making in EU Member States.
- A study of national legislation across 27 EU countries revealed that 22 have laws on genetic counselling, but practices and regulations differ significantly.
- Common barriers include workforce capacity and genetic literacy, with calls for better integration of genetic counsellors and updated laws to improve the overall practice.
Purpose: Females with biallelic CHEK2 germline pathogenic variants (gPVs) more often develop multiple breast cancers than individuals with monoallelic CHEK2 gPVs. This study is aimed at expanding the knowledge on the occurrence of other malignancies.
Methods: Exome sequencing of individuals who developed multiple primary malignancies identified 3 individuals with the CHEK2 (NM_007194.
Article Synopsis
- Rapid exome sequencing (rES) is becoming the go-to genetic test for critically ill patients, especially neonates and young infants, helping quickly identify genetic causes of rare diseases to guide treatment.
- A study evaluated rES on 575 patients over four years, revealing a significant increase in referrals and a decrease in turnaround time for results, with an overall diagnostic yield of 30.4%.
- Even when no genetic diagnosis was found, rES still influenced clinical decision-making, highlighting its value for patients of all ages and various rare conditions.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Richelle A C M Olde Keizer Abderrahim Marouane Wilhelmina S Kerstjens-Frederikse A Chantal Deden Klaske D Lichtenbelt Wendy A G van Zelst-Stams
Eur J Pediatr
June 2023
Article Synopsis
- Rapid exome sequencing (rES) was compared with routine genetic testing in a study involving 60 critically ill neonates to determine its impact on diagnosis and healthcare costs.
- rES achieved a higher diagnostic yield (20% vs. 10%) and provided results significantly faster (15 days vs. 59 days) than traditional methods.
- The study concluded that rES is clinically beneficial, offering improved diagnosis and reduced costs, suggesting it should be the standard first-tier genetic test for critically ill neonates.