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Vol. 151. Issue 2.
Pages 80.e1-80.e10 (July 2018)
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Vol. 151. Issue 2.
Pages 80.e1-80.e10 (July 2018)
Consensus statement
DOI: 10.1016/j.medcle.2018.05.027
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer
Documento de consenso sobre la implementación de la secuenciación masiva de nueva generación en el diagnóstico genético de la predisposición hereditaria al cáncer
José Luis Sotoa, Ignacio Blancob, Orland Díezc, Javier García Planellsd, Isabel Lordae,f, Gert Matthijsg, Mercedes Robledoh,f, Erika Soucheg, Conxi Lázaroi,
Corresponding author

Corresponding author.
a Molecular Genetics Laboratory, Elche University General Hospital, Alicante Institute for Health and Biomedical Research, Alicante, Spain
b Clinical Genetics and Genetic Counseling Program, Germans Trias i Pujol Hospital, Can Ruti Campus, Badalona, Barcelona, Spain
c Area of Clinical and Molecular Genetics, University Hospital Vall d’Hebron, and Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain
d Instituto de Medicina Genómica, Paterna, Valencia, Spain
e Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Diaz (IIS-FJD), Madrid, Spain
f Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
g Center for Human Genetics, KU Leuven, Gasthuisberg, Laboratory for Molecular Diagnosis, on behalf of the EuroGentest/ESHG Working Group on Diagnostic NGS, Leuven, Belgium
h Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain
i Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, L’Hospitalet del Llobregat, Barcelona, Spain
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Tables (1)
Table 1. Minimum content of a results report from a next generation sequencing (NGS) panel of genes. It is recommended to include all the essential information on the first page of the results report (points 1 to 13). Technical and quality details of the assay, as well as other useful information that may be considered, can be attached in the form of annexes.
Additional material (1)

Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs. Consequently, the implementation of this new technology is a great opportunity for improvement in the clinical management of affected families.

The aim of these guidelines is to establish a framework of useful recommendations for planned and controlled implementation of NGS in the context of hereditary cancer. These will help to consolidate the strengths and opportunities offered by this technology, and minimize the weaknesses and threats which may derive from its use.

The recommendations of international societies have been adapted to our environment, taking the Spanish context into account at organizational and juridical levels.

Forty-one statements are grouped under six headings: clinical and diagnostic utility, informed consent and genetic counselling pre-test and post-test, validation of analytical procedures, results report, management of information and distinction between research and clinical context.

This guide has been developed by the Spanish Association of Human Genetics (AEGH), the Spanish Society of Laboratory Medicine (SEQC-ML) and the Spanish Society of Medical Oncology (SEOM).

Next generation sequencing
Hereditary cancer
Genetic diagnosis
Consensus document

El diagnóstico genético de los síndromes de cáncer hereditario ofrece la oportunidad de establecer unas medidas de predicción/prevención eficaces en el paciente y sus familiares que se traducen en una disminución de la morbimortalidad por cáncer en las familias de alto riesgo genético. La secuenciación masiva (NGS) ofrece una considerable mejora de la eficiencia del diagnóstico genético, permitiendo un aumento del rendimiento diagnóstico con una reducción sustancial del tiempo de respuesta y costes económicos. En consecuencia, la implementación de esta nueva tecnología es una gran oportunidad de mejora en el manejo clínico de las familias afectas.

El objetivo de la presente guía es establecer un marco de recomendaciones útiles para una implementación planificada y controlada de la NGS en el contexto de la predisposición hereditaria a cáncer, que permita potenciar las fortalezas y oportunidades que ofrece dicha tecnología y minimizar las debilidades y amenazas que puedan derivarse de su uso.

Está inspirada en las recomendaciones de sociedades internacionales, habiendo sido adaptada a nuestro entorno, y teniendo en cuenta aspectos coyunturales a nivel organizativo y biojurídico.

Se aportan 41 declaraciones agrupadas en 6 apartados: utilidad clínica y diagnóstica, consentimiento informado y asesoramiento genético pretest y postest, validación de los procedimientos analíticos, informe de resultados, gestión de la información y distinción entre ámbito de investigación y ámbito asistencial.

Esta guía ha sido elaborada por la Asociación Española de Genética Humana (AEGH), la Sociedad Española de Medicina de Laboratorio (SEQC-ML) y la Sociedad Española de Oncología Médica (SEOM).

Palabras clave:
Secuenciación masiva
Cáncer hereditario
Diagnóstico genético
Documento de consenso


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