Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes

Table 1 Time of psychological outcome measures after genetic test disclosure

Ref.	Average months after genetic test disclosure
	≤ 1 m	Between 1 and 6 mo	More than 6 mo
Bish et al[29], 20021	Y	Y
Claes et al[24], 20041			Y
Graves et al[36], 20121			Y
Lumish et al[27], 2017			Y
Manne et al[22], 20041		Y
O’Neill et al[20], 20061		Y
O’Neill et al[6], 2009		Y	Y
Power et al[21], 2011	Y
Schwartz et al[31], 20021		Y
Smith et al[25], 20081	Y	Y

¹Studies that assessed also baseline levels of general distress, anxiety, depression and genetic test specific distress (i.e., before genetic test disclosure).

Y: Yes.

Table 2 Characteristics of included studies

Ref.	C country	AAim	Study design	Psychological measurements	Sample size and gene mutation status	Personal cancer history
Bish et al[29], 2002	United Kingdom	Examine the effects of an uncertain test results affects mood and behavior	Longitudinal	HADS; IES; GHQ-28; Cancer Worry Scale	Total sample = 48. Positive = 0. Negative = 0. Inconclusive = 48	History = 48. No history = 0
Claes et al[24], 2004	United States	Evaluate the impact of a genetic test result	Retrospective	IES; STAI; SCL-90; UCL; Semi structured-interview	Total sample = 48. Positive = 18. Negative = 6. Inconclusive = 24	History = 48. No history = 0
Graves et al[36], 2012	United States	Evaluate the long-term psychosocial impact of the genetic test result	Longitudinal	IES; STAI; BSI; PSS; MICRA	Total sample = 465. Positive = 144. Negative = 60. Inconclusive = 261	History = 390. No history = 75
Lumish et al[27], 2017	United States	Investigate the psychological outcomes of people who undergoing genetic test	Cross-sectional	IES; MICRA; SWD; AT-20	Total sample = 232. Positive = 25. Negative = 173. Inconclusive = 34	History = 129. No history = 103
Manne et al[22], 2004	United States	Evaluate the distress related to undergoing the genetic test	Longitudinal	IES; BSI; Discussion about testing; Sharing of concerns; Comfort sharing concerns; Protective Buffering; Relationship strain; Support/encouragement for testing; Perceived negative partner behaviors.	Total sample = 144. Positive = 38. Negative = 15. Inconclusive = 91	History = 115. No history = 29
O’Neill et al[20], 2006	United States	Explore psychological consequence and the tolerance of uncertain in women who receive an inconclusive test result	Longitudinal	IES; BSI; MICRA; IUS	Total sample = 64. Positive = 0. Negative = 0. Inconclusive = 64	History = 64. No history = 0
O’Neill et al[6], 2009	United States	Assess differences in distress levels over time	Longitudinal	IES; BSI; MICRA	Total sample = 209. Positive = 0. Negative = 190. Inconclusive = 19	History = 209. No history = 0
Power et al[21], 2011	Canada	Examine levels of distress in people undergoing genetic test	Cross-sectional	History Questionnaire; Feelings about Test Results Measure; Psychosocial Needs Questions; BSI-18	Total sample = 318. Positive = 85. Negative = 51. Inconclusive = 33. Attending result = 49. Not undergo genetic test = 100	History =160. No history = 158
Schwartz et al[31], 2002	United States	Examine the long-term psychological impact of receiving BRCA 1/2 test result	Longitudinal	IES; HSCL-25	Total sample = 279. Positive = 78. Negative = 58. Inconclusive = 143	History = 186. No history = 93
Smith et al[25], 2008	United States	Evaluate psychological consequences of genetic test results	Longitudinal	GSI; IES; PSS; STAI; CES-D; QoLS	Total sample = 126. Positive = 20. Negative = 67. Inconclusive = 13. Not undergo genetic test = 26	History = 58. No history = 68

HADS: Hospital Anxiety and Depression Scale; QoLS: Quality of Life Scale; CES-D: Center for Epidemiologic Studies Depression Scale; STAI: State-Trait Anxiety Inventory; IES: Impact of Event Scale; MICRA: Multidimensional Impact of Cancer Risk Assessment; UCL: Utrecht Coping List; SCL-90: Symptom Checklist-90; BSI: Brief Symptom Inventory; BSI-18: Brief Symptom Inventory-18; GSI: Global Severity Index; PSS: Perceived Stress Scale; SWD: Satisfaction with Decision Instrument; AT-20: Revised Scale for Ambiguity Tolerance; IUS: Intolerance of Uncertain; HSCL-25: Hopkins Symptom Checklist-25; GHQ-28: General Health Questionnaire-28.