Familial Cancer

, Volume 10, Issue 1, pp 43–50 | Cite as

Sharing genetic risk with next generation: mutation-positive parents’ communication with their offspring in Lynch Syndrome

  • Katja I. Aktan-Collan
  • Helena A. Kääriäinen
  • Eeva M. Kolttola
  • Kirsi Pylvänäinen
  • Heikki J. Järvinen
  • Ari H. Haukkala
  • Jukka-Pekka Mecklin
Article

Abstract

Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention. The responsibility of informing offspring about genetic risk often falls to the parents. We systematically investigated how parents with Lynch Syndrome share knowledge of genetic risk with their offspring, challenges in the communication process and wish for professional support. Of all known mutation carriers over age 40 (n = 337) in 102 Finnish Lynch Syndrome families, 86% completed a self-reported questionnaire; 248 of them (86%) had children. Of the 248 parents, 87% reported disclosure and 13% nondisclosure. Reasons for nondisclosure were mainly the young age of offspring, socially distant relationships, or feeling of difficulty in discussing the topic. Men reported significantly more often disclosure with a support person (spouse etc.) (P < 0.001). The most difficult communication aspect was discussing children’s cancer risk. Of the 191 firstborn adult children informed, 69% had taken the predictive genetic test. Every third parent suggested that health professionals should be involved in passing on the information and that a family appointment at the genetic clinic should be organized at the time of disclosure. Nearly all parents had informed their adult offspring about the genetic risk and possibility of genetic testing, but almost one-third were unsure of how their offspring had used the information. The challenge is to improve the communication processes, so that all offspring would get the information important for their health care, and parents would get the professional support desired at disclosure.

Keywords

Communication Genetic risk information Hereditary non-polyposis colorectal cancer HNPCC Lynch Syndrome 

Abbreviations

LS

Lynch Syndrome

HNPCC

Hereditary non-polyposis colorectal cancer

Notes

Acknowledgments

The authors thank the clinical geneticists of the medical genetic units in Finland for expert genetic counselling. The study was supported by the Finnish Cancer Society, the Yrjö Jahnsson Foundation, and the Central Finland Health Care District.

Conflict of interest

None.

References

  1. 1.
    Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932CrossRefPubMedGoogle Scholar
  2. 2.
    Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020–1027CrossRefPubMedGoogle Scholar
  3. 3.
    Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214–218CrossRefPubMedGoogle Scholar
  4. 4.
    Järvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K et al (2009) Ten years after mutation testing for Lynch Syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27:4793–4797CrossRefPubMedGoogle Scholar
  5. 5.
    De Jong AE, Hendriks YMC, Kleibeuker JH et al (2006) Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 130:665–671CrossRefPubMedGoogle Scholar
  6. 6.
    Claes E, Evers-Kiebooms G, Boogaerts A et al (2003) Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A116:11–19CrossRefGoogle Scholar
  7. 7.
    Hughes C, Lerman C, Schwartz M et al (2002) All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet 107:143–150CrossRefPubMedGoogle Scholar
  8. 8.
    Segal J, Esplen B, Toner B et al (2004) An investigation of the disclosure process and support need of BRCA1 and BRCA2 carriers. Am J Med Genet A125:267–272CrossRefGoogle Scholar
  9. 9.
    Gaff CL, Clarke JA, Atkinson P et al (2007) Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet 15:999–1011CrossRefPubMedGoogle Scholar
  10. 10.
    DeMarco TA, McKinnon WC (2007) Life after BRCA1/2 testing: family communication and support issues. Breast Dis 27:127–136Google Scholar
  11. 11.
    Chivers Seymour K, Addington-Hall J, Lucassen AM et al (2010) What facilitates or impedes family communication following genetic testing for cancer Risk? A systematic review and meta-synthesis of primary qualitative research. J Genet Couns [Epub ahead of print, 9 Apr 2010]Google Scholar
  12. 12.
    Peterson SK, Watts B, Koehly LM et al (2003) How families communicate about HNPCC genetic testing: findings from a qualitative study. Am J Med Genet 119C:78–86CrossRefPubMedGoogle Scholar
  13. 13.
    Mesters I, Ausems M, Eichhorn S et al (2005) Informing one’s family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study. Fam Cancer 4:163–167CrossRefPubMedGoogle Scholar
  14. 14.
    Carlsson C, Nilbert M et al (2007) Living with hereditary non-polyposis colorectal cancer; experiences from and impact of genetic testing. J Genet Couns 16:811–820CrossRefPubMedGoogle Scholar
  15. 15.
    Gaff CL, Collins V, Symes T et al (2005) Facilitating family communication about predictive genetic testing: probands’ perceptions. J Genet Couns 14:133–140CrossRefPubMedGoogle Scholar
  16. 16.
    Stoffel EM, Ford B, Mercado RC et al (2008) Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 6:333–338CrossRefPubMedGoogle Scholar
  17. 17.
    Pylvänäinen K, Kairaluoma M et al (2006) Compliance and satisfaction with long-term surveillance in Finnish HNPCC families. Fam Cancer 5:175–178CrossRefPubMedGoogle Scholar
  18. 18.
    Tupasela A (2006) When legal worlds collide: from research to treatment in hereditary cancer prevention. Eur J Cancer Care 15:257–266CrossRefGoogle Scholar
  19. 19.
    Aktan-Collan K, Mecklin JP, Jarvinen H et al (2000) Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 89:44–50CrossRefPubMedGoogle Scholar
  20. 20.
    Aktan-Collan K, Haukkala A, Kääriäinen H (2001) Life and health insurance behaviour of individuals having undergone a predictive genetic testing programme for hereditary non-polyposis colorectal cancer. Community Genet 4(4):219–224CrossRefPubMedGoogle Scholar
  21. 21.
    Aktan-Collan K, Haukkala A, Mecklin JP et al (2001) Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet 38:787–792CrossRefPubMedGoogle Scholar
  22. 22.
    Wertz DC, Fanos JH et al (1994) Genetic testing for children and adolescents. Who decides? JAMA 272:875–881CrossRefPubMedGoogle Scholar
  23. 23.
    Metcalfe A, Coad J, Plumridge G et al (2008) Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. Eur J Hum Genet 16:1193–1200CrossRefPubMedGoogle Scholar
  24. 24.
    Borry P, Evers-Kiebooms G, Cornel MC et al (2009) Genetic testing in asymptomatic minors: background considerations towards ESHG recommendations. Eur J Hum Genet 17(6):711–719CrossRefPubMedGoogle Scholar
  25. 25.
    Pentz RD, Peterson SK, Watts B et al (2005) Hereditary nonpolyposis colorectal cancer family members’ perceptions about the duty to inform and health professionals’ role in disseminating genetic information. Genet Test 9:261–268CrossRefPubMedGoogle Scholar
  26. 26.
    Landsbergen K, Verhaak C, Kraaimaat F et al (2004) Genetic uptake in BRCA mutation carriers is related to emotional and behavioural communication characteristics of index patients. Fam Cancer 4:115–119CrossRefGoogle Scholar
  27. 27.
    Lynch HT, Snyder CL, Lynch JF et al (2009) Family information service participation increases the rates of mutation testing among members of families with BRCA1/2 mutations. Breast J 15(Suppl 1):20–24CrossRefGoogle Scholar
  28. 28.
    Koehly LM, Peterson SK, Watts BG et al (2003) A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning. Cancer Epidemiol Biomarkers Prev 12:304–313PubMedGoogle Scholar
  29. 29.
    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 44:732–738CrossRefPubMedGoogle Scholar
  30. 30.
    Suthers GK, Armstrong J, McCormack J et al (2006) Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 43:665–670CrossRefPubMedGoogle Scholar
  31. 31.
    Swendsen MN, Koch L (2006) Genetics and prevention: a policy in the making. New Genetic Soc 5:51–68Google Scholar
  32. 32.
    Lynch PM (2007) New issues in genetic counselling and testing of hereditary colon cancer. Clin Cancer Res 13:6857–6861CrossRefGoogle Scholar
  33. 33.
    Vasen HFA, Möslein G, Alonso A et al (2010) Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer 9(2):109–115CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Katja I. Aktan-Collan
    • 1
    • 2
  • Helena A. Kääriäinen
    • 3
  • Eeva M. Kolttola
    • 2
  • Kirsi Pylvänäinen
    • 4
  • Heikki J. Järvinen
    • 5
  • Ari H. Haukkala
    • 2
  • Jukka-Pekka Mecklin
    • 4
  1. 1.Department of Medical Genetics, Haartman Institute BiomedicumUniversity of HelsinkiHelsinkiFinland
  2. 2.Department of Social Psychology, Faculty of Social SciencesUniversity of HelsinkiHelsinkiFinland
  3. 3.National Institute for Health and WelfareHelsinkiFinland
  4. 4.Department of SurgeryJyväskylä Central HospitalJyväskyläFinland
  5. 5.Department of Surgery, Division of GastroenterologyUniversity Hospital of HelsinkiHelsinkiFinland

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