Primary Care Implications of the Expanded National Guidelines for Germline Testing of Patients Previously Diagnosed with Colorectal Cancer

References

1. 1.↵
   American Cancer Society [Internet]. Cancer facts and statistics; 2022 [accessed 2022 Nov 1]. Available from: https://www.cancer.org/research/cancer-facts-statistics.html.
2. 2.↵
   American Cancer Society [Internet]. ACS key statistics for colorectal cancer; 2022 [accessed 2022 Nov 1]. Available from: https://www.cancer.org/cancer/colon-rectal cancer/about/key-statistics.html#:∼:text=In%20addition%2C%20treatments%20for%20colorectal,cancer%20in%20the%20United%20States.
3. 3.↵
   1. Benson AB,
   2. Venook AP,
   3. Al-Hawary MM,
   4. et al.

   [Internet]. NCCN clinical practice guidelines in oncology (NCCN guidelines) colon cancer, version 1.2022; 2022. Available from: https://www.nccn.org/professionals/physician_gls/pdf/colon.pdf.
4. 4.↵
   1. Gupta S,
   2. Weiss JM,
   3. Axel L,
   4. et al

   . Clinical practice guidelines in oncology (NCCN guidelines) genetic/familial high-risk assessments: colorectal, version 1.2022; 2022. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf.
5. 5.↵
   1. Jagsi R,
   2. Huang G,
   3. Griffith K,
   4. et al

   . Attitudes toward and use of cancer management guidelines in a national sample of medical oncologists and surgeons. J Natl Compr Canc Netw 2014;12:204–12.

   OpenUrlAbstract/FREE Full Text
6. 6.↵
   National Comprehensive Cancer Center Network [Internet]. About clinical practice guidelines; 2022 [accessed 2022 Nov 1]. Available from: https://www.nccn.org/guidelines/guidelines-process/about-nccn-clinical-practice-guidelines.
7. 7.↵
   1. Poplin R,
   2. Zook JM,
   3. DePristo M,
   4. et al

   . Challenges of accuracy in germline clinical sequencing data. JAMA 2021;326:268–9.

   OpenUrl
8. 8.↵
   1. Lynce F,
   2. Isaacs C

   . How far do we go with genetic evaluation? Gene, panel, and tumor testing. Educational Book 2016;E72–8.
9. 9.↵
   1. Srinivasan P,
   2. Bandlamudi C,
   3. Jonsson P,
   4. et al

   . The context-specific role of germline pathogenicity in tumorigenesis. Nat Genet 2021;53:1577–85.

   OpenUrl
10. 10.↵
    National Comprehensive Cancer Network [Internet]. Family history and inherited cancer genes; 2022 [accessed 2022 Nov 1]. Available from:https://www.cancerresearchuk.org/about-cancer/causes-of-cancer/inherited-cancer-genes-and-increased-cancer-risk/family-history-and-inherited-cancer-genes#:∼:text=Genetic%20specialists%20estimate%20that%20between,of%20different%20types%20of%20cance.
11. 11.↵
    National Cancer Institute [Internet]. Causes and prevention; 2022 [accessed 2022 Nov 1]. Available from: https://www.cancer.gov/about-cancer/causes-prevention/genetics.
12. 12.↵
    1. Kastrinos F,
    2. Syngal S

    . Inherited colorectal cancer syndromes. Cancer J 2011;17:405–15.

    OpenUrlCrossRefPubMedWeb of Science
13. 13.↵
    1. Burn J,
    2. Sheth H,
    3. Elliott F,
    4. et al

    . Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in a CAPP2 study: a double blind, randomized, placebo-controlled trial. Lancet 2020;395:1855–63.

    OpenUrlCrossRefPubMed
14. 14.↵
    1. Pearlman R,
    2. Frankel WL,
    3. Swanson B

    , Ohio Colorectal Cancer Prevention Initiative Study Groupet al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 2017;3:464–71.

    OpenUrl
15. 15.↵
    1. Yurgelun MB,
    2. Kulke MH,
    3. Fuchs CS,
    4. et al

    . Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol 2017;35:1086–95.

    OpenUrlCrossRefPubMed
16. 16.↵
    1. Uson PLS,
    2. Riegert-Johnson D,
    3. Boardman L,
    4. et al

    . Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: a multicenter prospective trial. Clin Gastroenterol Hepatol 2022;20:e508–28.

    OpenUrlPubMed
17. 17.↵
    1. Jiang W,
    2. Li L,
    3. Ke C-F,
    4. et al

    . Universal germline testing among patients with colorectal cancer: clinical actionability and optimized panel. J Med Genet 2022;59:370–6.

    OpenUrlAbstract/FREE Full Text
18. 18.↵
    1. Daly MB,
    2. Tuya P,
    3. Buys SS,
    4. et al.

    [Internet]. NCCN clinical practice guidelines in oncology (NCCN guidelines): genetic/familial assessment: breast, ovarian and pancreatic, version 2.2022; 2022. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf.
19. 19.↵
    1. Walker JL,
    2. Powell CB,
    3. Chen L-M,
    4. et al

    . Society of Gynecologic Oncology recommendations for the prevention of ovarian cancer. Cancer 2015;121:2108–20.

    OpenUrlPubMed
20. 20.↵
    1. Mahdavi M,
    2. Nassiri M,
    3. Kooshyar MM,
    4. et al

    . Hereditary breast cancer; genetic penetrance and current status with BRCA. J Cell Physiol 2019 May;234:5741–50.

    OpenUrl
21. 21.↵
    1. Duenas DM,
    2. Shipman KJ,
    3. Porter KM,
    4. et al

    . Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings. Genet Med 2022;24:610–21.

    OpenUrl
22. 22.↵
    1. Halverson CME,
    2. Wessinger BC,
    3. Clayton EW,
    4. Wiesner GL

    . Patients’ willingness to reconsider genetic testing after initially declining: mention it again. J Genet Couns 2020;29:18–24.

    OpenUrl
23. 23.↵
    President’s Cancer Panel [Internet]. Closing gaps in cancer screening: connecting people, communities, and systems to improve equity and access; 2022 [accessed 2022 Nov 1]. Available from: https://prescancerpanel.cancer.gov/report/cancerscreening/.
24. 24.↵
    1. Williams CD,
    2. Bullard AJ,
    3. O'Leary M,
    4. Thomas R,
    5. Redding TS,
    6. Goldstein K

    . Racial/ethnic disparities in BRCA counseling and testing: a narrative review. J Racial Ethn Health Disparities 2019;6:570–83.

    OpenUrl
25. 25.↵
    1. Hoskins PJ,
    2. Gotlieb WH

    . Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: a review of the literature. CA Cancer J Clin 2017;67:493–506.

    OpenUrlPubMed
26. 26.↵
    1. Luctkar-Flude M,
    2. Aiken A,
    3. McColl MA,
    4. Tranmer J,
    5. Langley H

    . Are primary care providers implementing evidence-based care for breast cancer survivors? Can Fam Physician 2015;61:978–84.

    OpenUrlAbstract/FREE Full Text
27. 27.↵
    1. Green MJ,
    2. Botkin JR

    . “Genetic exceptionalism” in medicine: clarifying the differences between genetic and non-genetic tests. Ann Intern Med 2003;138:571–5.

    OpenUrlCrossRefPubMedWeb of Science
28. 28.↵
    1. Burke W,
    2. Parens E,
    3. Chung WK

    . The challenge of genetic variants of uncertain clinical significance: a narrative review. Ann Intern Med 2022;175:994–1000.

    OpenUrl
29. 29.↵
    1. Crabtree BF,
    2. Miller WL,
    3. Howard J,
    4. et al

    . Cancer survivorship care roles for primary care physicians. Ann Fam Med 2020;18:202–9.

    OpenUrlAbstract/FREE Full Text
30. 30.↵
    1. Burke W

    . Genetic testing in primary care. Annu Rev Genomics Hum Genet 2004;5:1–14.

    OpenUrlCrossRefPubMedWeb of Science
31. 31.↵
    1. Hong S,
    2. Nekhlyudov L,
    3. Didwania A,
    4. Olopade O,
    5. Ganschow P

    . Cancer survivorship care: exploring the role of the general internist. J Gen Intern Med 2009;24:495–500.

    OpenUrlPubMed
32. 32.↵
    1. Nekhlyudov L,
    2. Greenfield S

    . Cancer survivorship care for the general internist: have we paved the way for a smoother transition? J Gen Intern Med 2009;24:381–2.

    OpenUrlPubMedWeb of Science
33. 33.↵
    1. Rubin G,
    2. Berendsen A,
    3. Crawford SM,
    4. et al

    . The expanding role of primary care in cancer control. Lancet Oncol 2015;16:1231–72.

    OpenUrlCrossRefPubMed
34. 34.↵
    1. Lemke AA,
    2. Amendola LM,
    3. Kuchta K,
    4. et al

    . Primary care physician experiences with integrated population-scale genetic testing: a mixed-methods assessment. JPM 2020;10:165.

    OpenUrl
35. 35.↵
    1. Hauser D,
    2. Obeng AO,
    3. Fei K,
    4. et al

    . Views of primary care providers on testing patients for genetic risks for common chronic diseases. Health Aff (Millwood) 2018;37:793–800.

    OpenUrlPubMed
36. 36.↵
    1. Osler W

    . The Quotable Osler. 2008. ACP Press.