Table 1 Objectives, instruments used and results of two preliminary studies undertaken prior to the current study

Phase I: Survey

1) to investigate psychosocial and behavioral impact of genetic testing (GT) process for at-risk individuals in LS families

Standardized scales (Impact of Events Scale (Horowitz et al. 1979), Centre for Epidemiologic Studies Depression Scale (Radloff 1977), State Trait Anxiety Inventory (Spielberger 1983), McMaster Family Assessment Device (Epstein et al. 1983), Family Hardiness Index (McCubbin et al. 1996), Quality of Life Index (Ferrans & Powers 1992), Social Support Questionnaire (Sarason et al. 1987), Ways of Coping Questionnaire (Lazarus & Folkman 1984)); researcher-developed items (medical history, worry/concerns, demographics, cancer experiences, reaction to & disclosure of results, screening & healthy living)

Sample characteristics:

- mean age of 47.4 (SD = 12.9), range 22 to 78 years

- female (57.5%), carriers (51.7%) of intron 5 splice site mutation (93.3%) and unaffected (77.5%)

2) to examine key factors (i.e., age, gender, education, supportive relationships, familial & personal cancer history, CRC knowledge, satisfaction with GT decision, time since GT) associated with difficulties in psychosocial and behavioral adjustment (reaction to GT results, perception of risk, willingness to disclose and to whom) in individuals affected/unaffected with cancer

- average of 6 years post-genetic testing

Key findings:

- over 33% had moderate to severe avoidance/intrusive thoughts post-GT;

- small percent above clinical cut-off score for depression and anxiety

- small percent with quality of life issues and lower family functioning (role execution & communication

- no significant impact for time since GT, gender, age, carrier or cancer status

Phase II: Qualitative

1) to explore meanings of genetic testing for individuals at risk for colorectal and related-cancers in LS families

Semi-structured interviews focused on: familial cancer experiences (exposure in close/distant members, first aware of hereditary link, perceived risk for self, screening/healthy living motivation) and pre/post GT (decision-making pre and post testing, experience with genetic counseling, reaction to GT results, understanding risk for self/others, impact on family, role/importance of supports, adjusting to status & experiences with health care

Constructs:

- Living in families with a strong history of hereditary cancer (familial cancer context & emergence of hereditary link)

2) to understand psychosocial and behavioral impact of genetic testing for carriers and non-carriers of LS

- Becoming aware of genetic testing and living the process (decision-making, reactions to results, understand risk, supportiveness of genetic counselors, disclose results)

3) to use emergent data to improve existing counseling programs

- Struggling to adjust (personal/family challenges, family dynamics/support, barriers/facilitators of adjustment)