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Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists

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Abstract

The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information. Barriers in conveying information include family communication problems and variable attitudes and practice among clinical geneticists. In this complex field, both medical, psychological, ethical and juridical aspects deserve consideration. Here we summarize the development of a revised guideline for clinical geneticists that allows a more active role of the geneticist, aimed at improving procedures to inform family members in Lynch syndrome and other hereditary and familial cancer syndromes.

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References

  1. Pylvänäinen K, Lehtinen T, Kellokumpu I, Järvinen H, Mecklin JP (2012) Causes of death of mutation carriers in Finnish Lynch syndrome families. Fam Cancer 11:467–471

    Article  PubMed  Google Scholar 

  2. Dutch Society for Clinical Genetics. Guideline on predictive DNA testing (Vereniging Klinische Genetica Nederland. Richtlijn voorspellend DNA-onderzoek). www.vkgn.org (in Dutch)

  3. Christiaans I, Birnie E, Bonsel GJ et al (2008) Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 16:1201–1207

    Article  PubMed  Google Scholar 

  4. Helderman-van den Enden AT, van den Bergen JC, Breuning MH et al (2011) Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level? Clin Genet 79:236–242

    Article  PubMed  CAS  Google Scholar 

  5. Stol YH, Menko FH, Westerman MJ, Janssens RM (2010) Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists. J Med Ethics 36:391–395

    Article  PubMed  Google Scholar 

  6. Godard B, Hulimann T, Letendre M et al (2006) Guidelines for disclosing genetic information to family members: from development to use. Fam Cancer 5:103–116

    Article  PubMed  Google Scholar 

  7. Offit K, Thom P (2007) Ethical and legal aspects of cancer genetic testing. Semin Oncol 35:435–443

    Article  Google Scholar 

  8. Offit K, Thom P (2010) Ethicolegal aspects of cancer genetics. Cancer Treat Res 155:1–14

    Article  PubMed  Google Scholar 

  9. Nicolás P (2009) Ethical and juridical issues of genetic testing: a review of the international regulation. Crit Rev Oncol Hematol 69:98–107

    Article  PubMed  Google Scholar 

  10. Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics (2011) Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information, 2nd edn. Report of the Joint Committee on Medical Genetics. RCP, London

  11. Lacroix M, Nycum G, Godard B, Knoppers B (2008) Should physicians warn patients’ relatives of genetic risk? Can Med Assoc J 178:593–595

    Article  Google Scholar 

  12. Ramsoekh D, van Leerdam ME, Tops CMJ et al (2007) The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. Clin Genet 72:562–567

    Article  PubMed  CAS  Google Scholar 

  13. Chivers Seymour K, Addington-Hall J, Lucassen A et al (2010) What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-analysis of primary qualitative research. J Genet Couns 19:330–342

    Article  PubMed  Google Scholar 

  14. Wiseman M, Dancyger C, Michie S (2010) Communicating genetic risk information within families: a review. Fam Cancer 9:691–703

    Article  PubMed  Google Scholar 

  15. Suthers GK, Amstrong J, McCormack J, Trott D (2006) Letting the family know; balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 43:665–670

    Article  PubMed  CAS  Google Scholar 

  16. Aktan-Collan K, Haukkala A, Pylvänäinen K et al (2007) Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet 44:732–738

    Article  PubMed  CAS  Google Scholar 

  17. Evans DGR, Binchy A, Shenton A et al (2009) Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin Genet 75:124–132

    Article  PubMed  CAS  Google Scholar 

  18. Forrest LE, Burke J, Bacic S et al (2008) Increased genetic counselling support improves communication of genetic information in families. Genet Med 10:167–172

    Article  PubMed  Google Scholar 

  19. Roshanai AH, Rosenquist R, Lampic C, Nordin K (2009) Does enhanced information at cancer genetic counselling improve counselees’ knowledge, risk perception, satisfaction and negotiation of information to at-risk relatives? A randomized study. Acta Oncol 48:999–1009

    Article  PubMed  Google Scholar 

  20. Leenen HJJ, Gevers JKM, Legemaate J (2011) Handboek Gezondheidsrecht. Deel I. Rechten van mensen in de gezondheidszorg. Boom Juridische Uitgevers, Den Haag

  21. de Wert G (2005) Cascade screening: whose information is it anyway? Eur J Hum Genet 13:397–398

    Article  PubMed  Google Scholar 

  22. Knoppers BM (2002) Genetic information and the family: are we our brother’s keeper? Trends Biotechnol 20:85–86

    Article  PubMed  CAS  Google Scholar 

  23. Parker M, Lucassen A (2003) Concern for families and individuals in clinical genetics. J Med Ethics 29:70–73

    Article  PubMed  CAS  Google Scholar 

  24. Parker M, Lucassen A (2004) Genetic information: a joint account? BMJ 329:165–167

    Article  PubMed  Google Scholar 

  25. Newson AJ, Humphries SE (2005) Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 13:401–408

    Article  PubMed  Google Scholar 

  26. Forrest LE, Delatycki MB, Skene L et al (2007) Communicating genetic information in families—a review of guidelines and position papers. Eur J Hum Genet 15:612–618

    Article  PubMed  Google Scholar 

  27. Grol R, Buchan H (2006) Clinical guidelines: what can we do to increase their use? Med J Aust 185:301–302

    PubMed  Google Scholar 

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Acknowledgments

We are grateful for the funding by the SKMS (Stichting Kwaliteitsgelden Medisch Specialisten) and the support given by Ms. Annemarie Hagemeijer, Ms. Lynette Wijgergangs, Netherlands Association of Medical Specialists, Utrecht, the Netherlands and Prof. Christi van Asperen, clinical geneticist, Leiden University Medical Center, Leiden, the Netherlands.

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Authors and Affiliations

  1. Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands

    Fred H. Menko, Lidewij Henneman & Yrrah Stol

  2. Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Cora M. Aalfs

  3. EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands

    Lidewij Henneman & Miranda Wijdenes

  4. Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

    Ellen Otten

  5. Netherlands Association of Medical Specialists, Utrecht, The Netherlands

    Marleen M. J. Ploegmakers

  6. Department of Social Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Johan Legemaate

  7. Department of Medical Psychology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Ellen M. A. Smets

  8. Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands

    Guido M. W. R. de Wert

  9. Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

    Aad Tibben

  10. Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands

    Aad Tibben

Authors
  1. Fred H. Menko
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  2. Cora M. Aalfs
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  3. Lidewij Henneman
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  4. Yrrah Stol
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  5. Miranda Wijdenes
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  6. Ellen Otten
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  7. Marleen M. J. Ploegmakers
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  8. Johan Legemaate
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  9. Ellen M. A. Smets
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  10. Guido M. W. R. de Wert
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  11. Aad Tibben
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Corresponding author

Correspondence to Fred H. Menko.

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Menko, F.H., Aalfs, C.M., Henneman, L. et al. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Familial Cancer 12, 319–324 (2013). https://doi.org/10.1007/s10689-013-9636-9

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  • DOI: https://doi.org/10.1007/s10689-013-9636-9

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