Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective.

OBJECTIVE: Germline genetic testing is increasingly offered to patients with epithelial ovarian cancer by non-genetic healthcare professionals, so called mainstream genetic testing. The aim of this study was to evaluate the effect of implementing a mainstream genetic testing pathway on the percentage of newly diagnosed patients with epithelial ovarian cancer to whom genetic testing was offered and the genetics-related healthcare costs. METHODS: The possible care pathways for genetic counseling and testing and their associated costs were mapped. Patient files from all newly diagnosed patients with epithelial ovarian cancer before (March 2016 - September 2017) and after (April 2018 - December 2019) implementing our mainstream genetic testing pathway were analyzed. Based on this analysis, the percentage of newly diagnosed patients to whom genetic testing was offered was assessed and genetics-related healthcare costs were calculated using a healthcare payer perspective based on a Diagnosis-Related Group financing approach. RESULTS: Within six months after diagnosis, genetic testing was offered to 56% of patients before and to 70% of patients after implementation of our mainstream genetic testing pathway (p = 0.005). Genetics-related healthcare costs decreased from €3.511,29 per patient before implementation to €2.418,41 per patient after implementation of our mainstream genetic testing pathway (31% reduction, p = 0.000). CONCLUSION: This study shows that mainstream genetic testing leads to a significantly higher proportion of newly diagnosed patients with epithelial ovarian cancer being offered germline genetic testing. In addition, it significantly reduces genetics-related healthcare costs per patient.

[Paroxysmal nocturnal hemoglobinuria in pregnancy]. / Paroxismale nachtelijke hemoglobinurie en zwangerschap.

The combination of paroxysmal nocturnal haemoglobinuria (PNH) and pregnancy occurred in three women aged 29, 31 and 35 years. One patient had a spontaneous abortion twice after which she committed suicide. In the other two the pregnancy and parturition--assisted--were without complications. However, one woman developed post-partum abdominal crises. The children were born at term and healthy. PNH is a rare form of haemolytic anemia. Pregnancy causes lethal complications in 6% of the cases of PNH, while 30% of the pregnancies end in spontaneous abortion or stillbirth. Accurate monitoring of pregnancy and the puerperium is essential.