Table 2.

Quantitative Studies

AuthorsRef.	Location	Design	Purpose	Sample	Measures	Primary findings	Scientific merit
Douma et al.25	Netherlands	Cross-sectional	Examine attitudes and experiences regarding childhood DNA testing, PND, and PGD within families at high risk for FAP	Familial adenomatous polyposis patients, carriers, noncarriers, partners; N = 525 FAP family members, 131 partners; FAP mean age: 43.6 (14.1, 16–84); partners mean: 46.0 (11.5, 21–79)	Demographic questionnaire; attitudes toward DNA testing in childhood questionnaire; experiences with DNA testing of children questionnaire; influence of FAP on desire to have children questions; attitudes toward PND and PGD questionnaire; experiences with PND and PGD questionnaire; psychosocial variable questionnaire	Seventy-two percent had a clinical geneticist explain test results to children (with or without parents). Twenty percent informed children of results themselves without a physician present, Four percent had not yet informed children due to feeling children were too young or because they were noncarriers. Thirty-four believe <12 years is appropriate age for testing; 38% preferred 12–16 years due to wanting the child to be able to understand the testing process. Fifty-two percent believed children should be tested individually at a fixed age; 37% wanted all children in a family tested at one time; 4% thought testing should not be done on children at all.	2.82
Hamilton et al.22	United States	Longitudinal, prospective	Examine the effects of open parent-child and parent-co-parent communication and perceived quality of parenting relationship on communication of cancer risk within the family	Mothers undergoing BRCA testing; N = 204, 102 parenting dyads; mothers mean age: 46.0 (6.0); partners mean age: 48.1 (6.8)	Demographic interview; clinical record abstraction; Parenting Alliance Measure; cognitive appraisals of parent-child communication questions (interview); Parent-Adolescent Communication	Open communication between mother and child, and partner and child, was associated with open communication 6 months after getting genetic test results. Both the mother-child and partner-child relationship qualities have important implications regarding communication about cancer risk.	2.18
Aktan-Collan et al.19	Finland	Cross-sectional	Examine whether Lynch Syndrome carriers in Finland inform their offspring of mutation, possibility of predictive genetic testing, and outcomes of this information and describe challenges in disclosure, wish for professional support, and impact of sex on communication	Lynch syndrome mutation carriers over 40 years old with offspring; N = 248, 121 men and 127 women; mean age = 56.4 (9.0); men mean age: 56.9 (8.8); female mean age: 55.8 (9.2)	Sharing of result questionnaire; outcome of communication questionnaire; offspring attitudes toward testing questionnaire; challenges to disclosure questionnaire; opinions on a family genetic appointment; opinions on who should disclose and how	Eighty-three percent reported having disclosed results to at least one adult child. Thirteen percent had chosen not to disclose due to age, maturity, difficulty with making contact, and too painful. Sixty-six percent with underage children had not disclosed because of age. Younger parents more likely to be nondisclosing, but other demographic factors were unrelated. Sixty-nine percent of first-born adult children got tested after learning about genetic risk. Sixty-seven percent parents disclosed alone (82% of women), 28% with someone else (men more likely to have a support person than women—45% vs. 12%), 5% had someone else disclose; and 44% disclosed to all children at once. Children's risk of cancer most difficult to discuss. Thirty-seven percent felt parents should inform children; 1/3 felt that health care professionals should also be involved.	2.64
Patenaude et al.23	Na	Intervention	Examine factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives among women tested in a clinical protocol	Personal or family history of breast, ovarian, or other cancer consistent with BRCA1/2 heredity with posterior probability of carrying an altered gene of ≥10% based on published probabilities or Bayesian calculations and documentation of participants or family member cancer diagnosis; N = 273 women; age only reported by category: n = 87 women ≤40, 97 women between 41 and 50, and 89 women older than 50	Family communication measure	Female children were told of mother's genetic testing result more often than males. Children 6–13 were told their mother's results less often than children ≥30 years. Adolescents (14–17 years old) and young adults (18–30 years old) were informed as often as those ≥30 years	2.55
Tercyak et al.41	United States	Qualitative/Group education session with optional results disclosure; follow-up telephone interview	Examine parents' communication behaviors about their BRCA test results to their children and examine relationship between parent disclosure to children and parent psychological functioning after testing	Parents with BRCA/hereditary breast cancer; N = 133 (109 mothers, 24 fathers); mean age = 39.8, SD = 8.6		Mothers were most likely to disclose mutation status to their children. Those utilizing more active coping and with higher general baseline stress or higher general post-test distress were more likely to share results with kids; parents either shared with all of the children or none (not examined by age).	2.36
Conley et al.26	United States	Cross-sectional	Assesses (1) to whom black women disclose genetic test results and (2) if patterns of disclosure vary based on test result (e.g., BRCA1/2 positive, negative, and VUS)	Black women (N = 149) with invasive; breast cancer diagnosed age ≤50 years; mean age = 44.9; SD = 6.2	Reasons for disclosing genetic test results questionnaire; Familial relationships	Disclosure to female relatives was greater than disclosure to males. Compared to those who tested negative or had a VUS, BRCA1/2-positive women were significantly less likely to disclose results to their daughters. Informing patients/family about cancer risk is generally not being recognized as a benefit of genetic testing.	2.73

FAP, familial adenomatous polyposis; PGD, preimplantation genetic diagnosis; PND, prenatal diagnosis; VUS, variant of uncertain significance.