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Table 1 Summary of psychological outcomes

From: Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature

Study

Country

Study design

Population

Select outcomes

BRADBURY ET AL. (2016) [20]

USA

Prospective study

Individuals > / = 18 years eligible for 25- gene panel testing, including BRCA1/2 negative individuals (n = 28) and BRCA1/2 untested (n = 21)

• No significant changes in general anxiety and depression [HADS], state anxiety [STAI], or breast cancer worry [IES] when compared pre- and post-disclosure

ESTEBAN ET AL. (2017) [21]

EU

Prospective longitudinal study

Individuals recruited from parent study FAMOSA completing multi-gene panel testing (25-genes) between Nov 2014 and Feb 2015. Cases had to fulfill either NCCN HBOC or Bethesda Lynch Syndrome criteria (n = 187)

• Cancer worry (CWS) did not change longitudinally (12-month follow-up) within subgroups (positive, negative and VUS genetic test result). Higher levels of worry were reported in the MP PV subgroup compared to those with a PV in a high risk gene at 1- week post-disclosure (p = 0.043);

• Distress [MICRA Subscale] levels were significantly higher in the PV subgroup compared to the negative and VUS subgroups at 1 week, 3 months, and 12 months (p < 0.01). Higher levels of distress were reported in the MP PV subgroup compared to those with a PV in a high risk gene at 12-months (p = 0.026)

• Uncertainty [MICRA subscale] did not change longitudinally (12- month follow-up) within subgroups (positive, negative and VUS genetic test result). Higher levels of uncertainty were reported in the MP PV subgroup compared to those with a PV in a high risk gene at 3- and 12-months post-disclosure (p=0.038 and p = 0.025)

• Genetic testing-specific concerns [IES] did not change longitudinally (12-month follow-up) within subgroups (positive, negative, and VUS). The MP PV subgroup reported higher levels of concern than those with a PV in a high risk gene (p = 0.031)

LUMISH ET AL. (2017) [22]

USA

Cross- sectional study

Patients referred to a cancer genetics clinic due to HBOC risk and underwent genetic testing between June 2013 and May 2015. The study sample (n = 232) was divided into 6 subgroups based upon both their genetic test result (positive, negative, or VUS) and personal cancer history (affected or unaffected)

• Psychological impact of genetic testing [MICRA distress subscale] and distress [IES] was higher in the affected carriers compared to those with VUS or negative result (both affected and unaffected) (p < 0.05)

IDOS ET AL. (2018) [23]

USA

Prospective longitudinal study

Individuals from three genetics clinics who met clinical guidelines or risk estimate thresholds for genetic testing and underwent multi-gene panel testing (either 25-gene or 28-gene panel) (n = 2000)

• Distress and uncertainty [MICRA subscales] levels were significantly higher in the PV subgroup compared to the negative and VUS subgroups (p < 0.001)

BRADBURY ET AL. (2020) [24]

USA

Prospective longitudinal study

Individuals > 17 years old with prior BRCA1/2 negative testing and offered multi-gene panel testing between January 2014 and January 2015 (n = 249)

• General anxiety [HADS] and state anxiety [STAI] did not reveal longitudinal change within groups based upon genetic test result (positive, VUS or negative);

• General depression [HADS] increased significantly from baseline to 12 months in the complete study sample (p < 0.001) and VUS (p < 0.01) subgroup;

• Cancer specific distress [IES] increased significantly from baseline to 12 months in the complete study sample (p = 0.04) and in the VUS subgroup at 6 months (p = 0.04);

• Uncertainty [MICRA] decreased significantly from baseline to 12 months in the entire study sample (p < 0.01) and negative (p < 0.001) and VUS (p < 0.01) subgroups at 6 months

BREDART ET AL. (2019) [25]

EU

Prospective longitudinal study

Individuals eligible for HBOC genetic testing recruited from genetics clinics in France, Germany, and Spain between November 2016 and April 2018 (n = 646)

• Specific psychosocial concerns [PAHC] were observed to decrease at 2 months post-disclosure compared to baseline in the complete study sample: 'hereditary predisposition' (p < 0.001), 'personal cancer' (p = 0.05), and 'children-related issues'(p < 0.001)