Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer
Condition: HNPCC; Hereditary Nonpolyposis Colon Cancer
MeSH terms: Colonic Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis
Study type: Observational

Summary: 
      This study, conducted by NHGRI and the M.D. Anderson Cancer Center in Houston, Texas, will
      develop statistical approaches for modeling family social structure and apply these models to
      explore the role of family social structure in participation in genetic testing and
      counseling, disclosure of test results and adjustment to risk status. With recent genetic
      advances and the ability to test for hereditary illnesses, methods that provide an
      understanding of the family social structure and how that structure affects the dissemination
      of genetic risk information are increasingly important.

      The data for this study were collected by the M.D. Anderson Cancer Center as part of a study
      on family communication and family functioning with regard to genetic testing for hereditary
      nonpolyposis colon cancer (HNPCC). Relatives of people with HNPCC are more likely than the
      general population to get colon cancer and other types of cancer if they have inherited the
      gene alteration (mutation) that predisposes to the disease. This alteration can be passed on
      from a parent to some or all of his or her children.

      In the M.D. Anderson Cancer Center study, telephone interviews were conducted with 80 adult
      members of 16 extended families with a known gene alteration predisposing for HNPCC. These
      participants included people who had been diagnosed with an HNPCC syndrome cancer, their
      unaffected family members who were at risk of carrying a gene mutation for HNPCC, and their
      spouses. Participants were interviewed about their feelings, moods, coping style, and
      relationships with their spouse, relatives, and friends, about their willingness to have
      genetic testing, and about their feelings and beliefs about colon cancer, cancer screening
      and genetic testing and counseling. Some participants were asked about their family
      communication style and how the family coped with the idea of genetic testing and with the
      results, if testing was done.

      The information obtained from the current study may help facilitate family participation,
      communication and psychological adjustment regarding risk information about genetic diseases.
    

Detailed description: 
      The current research has two objectives: (1) development of statistical methods for modeling
      family systems, and (2) characterization of the psychosocial and relational aspects of
      families with a known mutation for hereditary nonpolyposis colon cancer (HNPCC). This work
      focuses on the family, and the family's social structure, as the unit of study. Data were
      collected between 8/1999 and 6/2002 at the University of Texas MD Anderson Cancer Center
      (UTMDACC) as part of a qualitative study of family communication and family functioning with
      regard to HNPCC genetic testing. Semi-structured telephone interviews were conducted with 80
      adult members of 16 extended families with a known HNPCC-predisposing mutation. Family
      members included those who had been diagnosed with a HNPCC syndrome cancer, unaffected
      individuals who are at risk of carrying a mutation, and their spouses. The semistructured
      interview guide was designed to define family network members and to measure the social
      relations within each respondent's familial network. Social network data were collected
      describing the support, communicative, and affective relationships between respondents' and
      members of their family. Both positive (e.g. closeness) and negative (e.g. conflict)
      relationships were measured. Communication relations specific to disclosure of mutation
      status, cancer risk, participation in genetic testing and counseling efforts and surveillance
      practices were obtained. In addition to relational measurements, demographic, health-related
      (e.g. previous cancer diagnoses, adherence to surveillance regimens), psychosocial (e.g.
      distress, coping) and behavioral (e.g. participation in genetic testing) measures were
      obtained. The measurement methodology involved the use of interdependent ego-centered
      networks. The respondents, or egos, defined those persons (alters) who they perceived to be
      members of their family. Each respondent was then interviewed to obtain relational
      measurements (e.g. social support, communication) for each of their alters. Respondents who
      were members of the same family may name each other as family members and also may have
      alters in common. This interdependency based on overlapping family membership needs to be
      accounted for in the statistical approaches used to analyze the data. The primary goal of the
      current project is to develop and refine statistical models for interdependent ego-centered
      networks. The developed models will then be used to investigate the role of the familial
      social structure in communications about genetic testing and counseling, disclosure of
      mutation status, participation in genetic testing and counseling efforts, and adjustment to
      risk status.
    

Keywords: Family Systems; Communication; Information Diffusion; Social Networks; Family Dynamics