Presymptomatic diagnosis of hereditary colorectal cancer

Findings by SBU Alert

This is a translation of version 1, published on February 2, 2000. The latest version of this report is not available in English.

People with a hereditary disposition for colorectal cancer are at high risk for developing cancer during their lifetime. Methods are available both to determine whether such a predisposition exists and to detect early stages of cancer. Given this information, patients can be screened via regular examination of the colon (coloscopy) and in some cases be offered preventive surgery, which substantially reduces the risk for cancer.

There is good* evidence concerning the association between the prevalence of certain genes and the risk for cancer. There is moderate* evidence regarding the effects of preventive interventions in individuals at high risk. Assessments are lacking on how total programs affect survival, quality-of-life, and costs.

Due to ethical and practical considerations, there are limited opportunities to use randomized studies to evaluate screening for hereditary disposition for disease. Hence, it is important to use model analyses to illuminate the full range of patient benefits and economic consequences from all types of preventive programs aimed at healthy individuals.

*This assessment by SBU Alert uses a 4-point scale to grade the quality and evidence of the scientific documentation. The grades indicate: (1) good, (2) moderate, (3) poor, or (4) no scientific evidence on the subject.

This summary is based on a report prepared at SBU in collaboration with Prof Magnus Nordenskjöld, MD PhD, The Karolinska Hospital, Jan Björk, MD, The Karolinska Hospital, and Assoc Prof Annika Lindblom, MD PhD, The Karolinska Hospital. It has been reviewed by Assoc Prof Lennart Iselius, MD PhD, The Karolinska Hospital

Alert is a joint effort by the Swedish Council on Technology Assessment in Health Care (SBU), the Medical Products Agency, the National Board of Health and Welfare, and the Federation of Swedish County Councils.

References

1. Dunlop M, Campbell H. Screening for people with a family history of colorectal cancer. BMJ 1997;314:1779-80.
2. Järvinen HC, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary non-polyposis colorectal cancer. Gastroenterol 1995;108:1405-11.
3. Prislista för Sydöstra sjukvårdsregionen, 1999.
4. Socialstyrelsen. Genetik & Genteknik i hälso- och sjukvården. SoS-rapport 1999:2.
5. Syngal S, Weeks J, Schrag D, Garber JE, Kuntz K. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with heriditary non-polyposis colorectal cancer mutations. Ann Intern Med 1998;15:787-796.
6. Vasen HF, van Ballegooijen M, Kleibeuker JK, Taal BG, Griffioen G, Nagengast FM et al. A cost-effectiveness analysis of colorectal screening of hereditary non-polyposis colorectal carcinoma gene carriers. Cancer 1998;82:1632-37.