Articles

The Belgian next generation sequencing guidelines for haematological and solid tumours

BJMO - volume 11, issue 2, march 2017

Ir A. Hébrant PhD, G. Froyen PhD, B. Maes MD, PhD, R. Salgado MD, PhD, M. Le Mercier PhD, N. D’Haene MD, PhD, S. De Keersmaecker PhD, K. Claes PhD, J. Van der Meulen MD, P. Aftimos MD, J. Van Houdt PhD, K. Cuppens MD, K. Vanneste PhD, E. Dequeker PhD, S. Van Dooren PhD, J. Van Huysse MD, F. Nollet PhD, S. Van Laere PhD, B. Denys MD, V. Ghislain , C. Van Campenhout PhD, M. Van den Bulcke PhD

SUMMARY

Targeted next generation sequencing is a complex procedure including the ‘wet bench’ and ‘dry bench’ parts. Both parts are composed of many steps for which optimal assay conditions and settings must be determined.

The aim of these guidelines is to provide generic, platform independent, recommendations for targeted next generation sequencing tests to detect acquired somatic mutations in DNA, in (haemato)-oncology that are complementary to the ISO 15189 norm (medical laboratories) in order to:

  1. facilitate the implementation of the required quality metrics for the detection of somatic variants by next generation sequencing in oncology and haemato-oncology in the Belgian laboratories,
  2. harmonise test validation and verification,
  3. harmonise clinical interpretation and reporting of variants and,
  4. assure and maintain optimal test performance by establishing procedures and modalities for internal quality control and external quality assessments.

(BELG J MED ONCOL 2017;11(2):56–67)

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Therapy-orienting testing of BRCA1 and BRCA2 germline mutations in women with ovarian cancer

BJMO - volume 9, issue 2, may 2015

K. Claes PhD, H. Denys MD, PhD, M. Huizing MD, PhD, I. Vergote MD, PhD, F. Kridelka MD, PhD, J. De Grève MD, PhD, V. Bours MD, PhD, On behalf of the BRCA Testing Working Group.

With the aim to optimally position poly-(adenosine diphosphate-ribose) polymerase inhibitors in the treatment of ovarian cancer, a panel of Belgian Experts came to a national multidisciplinary consensus: (i) germline BRCA1/2 testing should be indicated for all women with high-grade serous epithelial ovarian cancer, who are in good general condition (i.e. eligible for systemic treatment with low toxicity); BRCA1/2 mutation detection ratios being about 15–20% in this group; (ii) as the finding of a BRCA1/2 germline mutation has therapeutic implications in ovarian cancer patients, the request for therapy-orienting testing should be made as soon as possible during the course of first-line treatment. Pre-test genetic counselling is important because positive testing has implications for both the patients and their relatives, and the nature of the discussions depends on whether they take place in a therapeutic or familial context. The organisation of consultations should be coordinated in a collaborative effort between clinical geneticists, and gynaecological and medical oncologists, keeping in mind that ‘fast-track’ pre-test genetic counselling and short turnaround times are required for patients for whom the test results will have a therapeutic impact. Offering germline BRCA1/2 testing to all patients with high-grade serous epithelial ovarian cancer who are eligible for systemic treatment with low toxicity will lead to a limited increase in the number of patients eligible for this test in Belgium.

(BELG J MED ONCOL 2015;9(2):65–70)

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