Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both ...well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as well as more recently identified cancer genes (e.g., PALB2, BRIP1), many of which have increased but less well-defined penetrance.
Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line cancer genes, and results were analyzed for frequency of pathogenic or likely pathogenic variants, and were stratified by testing panel, gene, and clinical history.
Overall, a molecular diagnosis was made in 9.0% of patients tested, with the highest yield in the Lynch syndrome/colorectal cancer panel. In patients with breast, ovarian, or colon/stomach cancer, positive yields were 9.7, 13.4, and 14.8%, respectively. Approximately half of the pathogenic variants identified in patients with breast or ovarian cancer were in genes other than BRCA1/2.
The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.
Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating ...alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery.
Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC.
TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient.
Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.
Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As ...part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC,
N
= 272; UC,
N
= 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95 % CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95 % CI = 0.40–0.80) and emotional recognition (OR = 0.53, 95 % CI = 0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR = 3.06, 95 % CI = 1.39–6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR = 0.80, 95 % CI = 0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.
Telephone genetic counseling (TC) for high-risk women interested in
BRCA1/
2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, ...little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N = 236; UC, N = 243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11,
p
= 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (β = 0.172,
p
< 0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79) = 2.21,
p
= 0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings.
This study investigated the experience of receiving a diagnosis of clefting in the prenatal or postnatal period. Open-ended interviews were conducted with 20 parents of children with cleft lip with ...or without cleft palate. Interviews were transcribed and analyzed using a qualitative descriptive approach with an emphasis on thematic analysis. Common themes emerged from participants’ responses regarding the delivery of the diagnosis, preparation for the birth of their child, advantages and disadvantages of prenatal diagnosis, use of the Internet, views on abortion and genetic testing, among other issues. All participants in the prenatal group indicated they were satisfied they learned of the cleft before the birth of their child. Some participants in the postnatal group would rather have received the diagnosis prenatally, while others were content with learning of the diagnosis in the delivery room. Greater awareness of the parental experience of the timing of receiving a cleft diagnosis may assist health care professionals in providing care for these families.
Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes ...are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.
The primary element involved in the practical delivery of hereditary cancer risk counseling is the development of a cancer genetics service. This service should involve a multidisciplinary core of ...specialists, aim to identify at-risk individuals and their families, and provide comprehensive genetic counseling with the option of genetic testing. This article examines the development of a cancer genetics service beginning with the fundamentals of patient ascertainment, location, staffing, and billing. It also reviews the elements involved in the provision of genetic counseling services, including formalized risk assessment and risk communication. Finally, we review novel modes of delivery of genetic counseling including the use of telephone counseling and telemedicine as a means of expanding the scope of this service and extending its reach to individuals who might otherwise not have access to a risk assessment clinic. Overall, this presentation can serve as a resource for identifying the practical aspects involved in the delivery of hereditary cancer risk counseling and their subsequent integration into the workings of a proficient cancer genetics service able to identify and serve at-risk patients and their family members.
Abstract Objective To determine the prevalence of fathers’ attendance at pretest cancer genetic counseling sessions with mothers undergoing BRCA1 / 2 genetic testing for hereditary breast/ovarian ...cancer (HBOC) risk, and to identify psychosocial and other correlates of fathers’ attendance. Methods One hundred and twenty-one fathers of minor-age children who were spouses/partners of women (mothers) undergoing such counseling and testing were recruited, completed a behavioral self-report survey, and provided data about their sociodemographic backgrounds, father–child cancer communication histories, parenting relationship quality, and information-seeking and perceived knowledge. Results A total of 27.3% of fathers attended pretest cancer genetic counseling with mothers. Compared to fathers who did not attend pretest cancer genetic counseling, those who did had stronger parenting alliances with mothers, were more likely to have sought out information about BRCA1 / 2 testing, and felt more informed about testing. In an adjusted logistic regression model of session attendance, the strength of the parenting alliance was associated with a 6% increase in the likelihood of attending genetic counseling (odds ratio OR = 1.06, 95% confidence interval CI = 1.01, 1.12, p < .05) and greater perceived knowledge about BRCA1 / 2 testing was associated with a four-fold increase in the likelihood of session attendance (OR = 4.03, CI = 1.77, 9.37, p < .001). Conclusion One in three fathers attend pretest cancer genetic counseling with mothers undergoing BRCA1 / 2 testing; those who do have closer parenting relationships and are more informed about BRCA1 / 2 testing. Practice implications When possible, providers should discuss mothers including fathers in cancer genetic counseling sessions as this may affect outcomes of HBOC genetic counseling and testing.
ABSTRACT
Background
The perspective and experiences of individuals with Parkinson's disease (PD) regarding genetic testing is limited.
Objectives
To determine if anticipated benefits and negative ...consequences of genetic testing noted in prior studies have occurred in a surveyed group of patients with PD and to identify reasons why some individuals with PD have not had testing.
Methods
Individuals were surveyed from 22 support/advocacy groups throughout the US. Information about patient demographics and genetic testing were assessed, along with the consequences experienced after testing or anticipated by those who have not had testing. Descriptive statistics, Pearson correlation coefficient, ANOVA, and independent sample t‐test were utilized for data analysis.
Results
Of the genetic testing group (n = 78), most received testing through a research study (44.9%) or a Direct‐to‐Consumer company (46.2%). Most did not meet with a genetic counselor before (87.2%) or after testing (64.1%). Fewer positive and fewer negative consequences were reported after testing compared to the consequences anticipated by those who have not undergone testing (P < 0.001, all comparisons). Of the non‐genetic testing group (n = 166), 49.4% did not undergo testing because they were not aware it was available and 38.0% because their doctor did not offer it.
Conclusions
Findings demonstrate the need for providers to have genetic testing discussions with PD patients, who may otherwise seek testing via Direct‐to‐Consumer companies or be unaware it is available. Collaborations with genetic counselors trained in providing anticipatory guidance may assist patients in forming more realistic expectations regarding the consequences experienced after genetic testing for PD.
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