[Genetic counselling in breast cancer and colon cancer]

Tejada MI, Rueda JR, Nicolas P, Ojembarrena E, Lopez-Ariztegui MA, Lopez-Vivanco G, Guerra I, Errasti J, de Pablo JL, Algorta J, Mujica K, Piera J, Marijuan MI, Sarriugarte G
Record ID 32008000097
Original Title: Consejo genético en el cáncer de mama y en el cáncer de colon
Authors' objectives: ● Determine the status of molecular genetic diagnoses and genetic counselling in breast and colon cancer in the Autonomous Community of the Basque Country and to estimate the prevalence of BRCA1, BRCA2, MLH1 and MSH2 mutations and the possible volume of individuals likely to be included in genetic counselling programmes for breast and colon cancer in the Basque Community. ● Analyse the clinical utility of genetic counselling and of the study of the BRCA1, BRCA2, MLH1 and MSH2 genes in breast and colon cancer and to present its ethical and legal implications. ● Assess the costs and draw up recommendations for the organisation of genetic counselling services and molecular diagnoses of these neoplasms in the public health network of Osakidetza.
Authors' results and conclusions: It has been seen that there is no formal offer of genetic counselling activities for breast or non-polyposic colon cancer in the Basque Community, but there are patients with mutations and families in which a high risk of contracting cancer is transmitted. Estimations of the expected workload, as well as the estimated cost of providing adequate cover for these requirements are also presented. In order to facilitate the contents of genetic counselling, analyses are presented of the penetrance of different mutations and of the effectiveness and safety of different clinical strategies and of tackling prevention in family members of cases of hereditary breast and non-polyposic colon cancer. Finally, the Project analyses the special characteristics and the ethical and legal implications of genetic diagnosis tests and of genetic counselling in hereditary cancer. It also examines the decrees issued at an autonomous community level to organise these services, and sets out the recommendations of a number of different international organisations and the relevant legal regulations in Spain.
Authors' recommendations: The Project considers that the implementation and development of Diagnoses and Genetic Counselling in hereditary breast and colon cancers in the Basque Autonomous Community are necessary and concludes that the autonomous government is responsible for its organisation under conditions that guarantee the effective accessibility and equality of access of all our citizens to these services. The authors argue in favour of the creation of a Family Cancer Unit in the Basque Autonomous Community and set out the characteristics to be taken into consideration in the health care process that would be developed by this Unit, in three key aspects: identification of patients and the genetic counselling surgery, the genetic study and the monitoring of patients and family members. The Study indicates the human and organisational resources considered necessary for the Family Cancer Unit and recommends its coordination with other health care units of the public health service, such as Oncology, Gynaecology, Digestive and Laboratory Services.
Authors' methods: ● Analysis of information collected in the Cancer Registries of the Basque Autonomous Community, in the databases of the Early Breast Cancer Detection Programme and in genetic services, plus information collected in a survey sent to services associated with patients with hereditary cancer in the public and private health network of the Basque Community, in order to estimate the resources required to cover the potential demand for genetic diagnoses and counselling. ● Analysis of the effectiveness and safety of available interventions in mutation carriers through systematic reviews of other evidence, beginning with a number of different bibliographic searches completed as of September 16 2005, in Medline, EMBASE, the databases of the Cochrane Collaboration and those of the CRD of York University, combining a number of different terms in English: «genetic counselling», «hereditary breast cancer», «hereditary colon cancer», «prophilactic surgery», «chemoprophylaxis», «surveillance», «early diagnosis». Preference has been given to the search for randomised clinical tests and, in their absence, studies that provide the highest level of scientific evidence available for each comparison between different options. ● Analysis of legal regulations and ethical recommendations on genetic diagnosis and counselling and on the organisation of these services in other Autonomous Communities.
Project Status: Completed
Year Published: 2007
English language abstract: An English language summary is available
Publication Type: Mini HTA
Country: Spain
MeSH Terms
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Neoplastic Syndromes, Hereditary
  • Neoplasms
  • Genetic Testing
  • Breast Neoplasms
  • Colonic Neoplasms
  • Cáncer de Colon
  • Cáncer de Mama
  • Pruebas Genéticas
  • Síndromes Neoplásicos Hereditarios
  • Predisposición Genética a la Enfermedad
  • Consejo Genético
Organisation Name: Basque Office for Health Technology Assessment
Contact Address: C/ Donostia – San Sebastián, 1 (Edificio Lakua II, 4ª planta) 01010 Vitoria - Gasteiz
Contact Name: Lorea Galnares-Cordero
Contact Email: lgalnares@bioef.eus
Copyright: <p>Basque Office for Health Technology Assessment, Health Department Basque Government (OSTEBA)</p>
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.