Tags

Type your tag names separated by a space and hit enter

Genetic counseling and cascade genetic testing in Lynch syndrome.

Abstract

Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

Links

  • Publisher Full Text
  • Authors+Show Affiliations

    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2001 Polaris Parkway, Columbus, OH, 43240, USA. Heather.Hampel@osumc.edu.

    Source

    Familial cancer 15:3 2016 07 pg 423-7

    MeSH

    Colorectal Neoplasms, Hereditary Nonpolyposis
    Cost-Benefit Analysis
    Early Detection of Cancer
    Endometrial Neoplasms
    Female
    Genetic Counseling
    Genetic Testing
    Health Policy
    Humans
    Risk Reduction Behavior

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    26969309

    Citation

    Hampel, Heather. "Genetic Counseling and Cascade Genetic Testing in Lynch Syndrome." Familial Cancer, vol. 15, no. 3, 2016, pp. 423-7.
    Hampel H. Genetic counseling and cascade genetic testing in Lynch syndrome. Fam Cancer. 2016;15(3):423-7.
    Hampel, H. (2016). Genetic counseling and cascade genetic testing in Lynch syndrome. Familial Cancer, 15(3), pp. 423-7. doi:10.1007/s10689-016-9893-5.
    Hampel H. Genetic Counseling and Cascade Genetic Testing in Lynch Syndrome. Fam Cancer. 2016;15(3):423-7. PubMed PMID: 26969309.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Genetic counseling and cascade genetic testing in Lynch syndrome. A1 - Hampel,Heather, PY - 2016/3/13/entrez PY - 2016/3/13/pubmed PY - 2017/7/18/medline KW - Cascade testing KW - Genetic counseling KW - Genetic testing KW - Lynch syndrome SP - 423 EP - 7 JF - Familial cancer JO - Fam. Cancer VL - 15 IS - 3 N2 - Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine. SN - 1573-7292 UR - https://www.unboundmedicine.com/medline/citation/26969309/Genetic_counseling_and_cascade_genetic_testing_in_Lynch_syndrome_ L2 - https://doi.org/10.1007/s10689-016-9893-5 DB - PRIME DP - Unbound Medicine ER -