Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer

Colorectal Cancer Clinical Trial

Official title:

Outcomes in Education and Counseling for HNPCC Testing

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00004210
• Other study ID #: CDR0000067459
• Secondary ID: NCI-95-HG-0165NC
• Status: Completed
• Phase: N/A
• First received: January 21, 2000
• Last updated: October 23, 2014
• Start date: February 2000
• Est. completion date: June 2011

Study information

• Verified date: July 2009
• Source: National Cancer Institute (NCI)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Interventional

Clinical Trial Summary

RATIONALE: Identifying family and individual characteristics may help plan education and counseling for patients who are considering genetic testing.

PURPOSE: This clinical trial is studying education and counseling to see what effect they have in patients who are undergoing genetic testing for hereditary nonpolyposis colon cancer (recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons within families already participating continues).

Description:

OBJECTIVES:

• Identify family characteristics, personality traits, and religious and spiritual beliefs that significantly affect individual decisions regarding mutation testing for hereditary nonpolyposis colon cancer (HNPCC) (recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons within families already participating continues).

• Determine the impact of negative vs positive mutation test results on family relationships and psychological status.

• Assess expectations regarding testing and how they influence perceptions of risks and responses to risk notification.

• Determine the impact of risk notification on the frequency of screening/prevention activities.

• Formulate a standard diagnostic algorithm for determining microsatellite instability based on the analysis of tumors with this extensive array of markers and correlate specific replication error phenotypes with germline genotype.

OUTLINE: Participants complete a baseline assessment of knowledge, risk perception, and personality traits followed by a structured pretest education session. Participants are then offered the choice of whether or not to undergo genetic testing for mutations in hereditary nonpolyposis colon cancer (HNPCC) genes. Participants who choose to undergo genetic testing provide a blood sample for this purpose. Participants who undergo genetic testing receive results and counseling (recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons within families already participating continues).

Available surveillance options are discussed for all participants. Psychological and behavioral outcomes are reassessed at 6 and 12 months for both those choosing and not choosing genetic testing.

Tumors (when available) are analyzed for mismatched repair deficiency on the basis of microsatellite instability.

PROJECTED ACCRUAL: A total of 900 participants will be accrued for this study, with a specific target of 200 individuals who have not experienced cancer within families identified with hereditary nonpolyposis colon cancer (HNPCC) mutations (recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons within families already participating continues).

Other known NCT identifiers

• NCT00001470

Recruitment information / eligibility

• Status: Completed
• Enrollment: 900
• Est. completion date: June 2011
• Est. primary completion date: June 2011
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

DISEASE CHARACTERISTICS:

• Meets one of the following criteria:

• Family history consistent with hereditary nonpolyposis colon cancer (HNPCC)*

• At least 3 relatives with histologically proven colorectal cancer or HNPCC-associated cancer and 1 is a first-degree relative of the other 2

• At least 2 successive generations affected

• Colorectal cancer (or HNPCC-associated cancer) diagnosed under age 50 in 1 of the relatives

• Diagnosis of colorectal cancer under age 41

• HNPCC-associated cancer/polyps* under age 41 with a microsatellite instability (MSI) phenotype

• Multiple primary HNPCC-associated cancers* regardless of family history

• Colorectal or other HNPCC-associated tumor/polyp* demonstrating a positive MSI phenotype and at least 1 second-degree (or closer) and 1 third-degree (or closer) relative with a HNPCC-associated cancer

• 1 affected family member must have one of the following:

• Right-sided colon cancer

• Multiple primary HNPCC-associated cancers

• Diagnosis of cancer prior to age 51 NOTE: *Recruitment of new families with HNPCC stopped as of 04-26-06, recruitment of persons within families already participating continues

PATIENT CHARACTERISTICS:

Age:

• 18 and over

Performance status:

• Not specified

Life expectancy:

• Not specified

Hematopoietic:

• Not specified

Hepatic:

• Not specified

Renal:

• Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy:

• Not specified

Chemotherapy:

• Not specified

Endocrine:

• Not specified

Radiotherapy:

• Not specified

Surgery:

• Not specified

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label

Related Conditions & MeSH terms

• Colorectal Cancer

Intervention

Other:
• loss of heterozygosity analysis

• microsatellite instability analysis

• mutation analysis

• counseling intervention

Locations

Country	Name	City	State
United States	National Human Genome Research Institute	Bethesda	Maryland
United States	Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office	Bethesda	Maryland

Sponsors (2)

Lead Sponsor	Collaborator
National Human Genome Research Institute (NHGRI)	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

Hadley DW, Ashida S, Jenkins JF, Calzone KA, Kirsch IR, Koehly LM. Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation. Clin Genet. 2011 Apr;79(4):321-8. doi: 10.1111/j.1399-0004.2010.01622.x — View Citation

Hadley DW, Jenkins J, Dimond E, Nakahara K, Grogan L, Liewehr DJ, Steinberg SM, Kirsch I. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med. 2003 Mar 10;163(5):573-82. — View Citation

Hadley DW, Jenkins JF, Dimond E, de Carvalho M, Kirsch I, Palmer CG. Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2004 Jan 1;22(1):39-44. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members