The goal of the Familial Dilated Cardiomyopathy (FDC) Research Project, initiated in 1993, has been to identify and characterize FDC genetic cause. All participating individuals have been consented for the return of genetic results, an important but challenging undertaking. Since the inception of the Project we have enrolled 606 probands, and 269 of these had 1670 family members also enrolled. Each subject was evaluated for idiopathic dilated cardiomyopathy (IDC) and pedigrees were categorized as familial or sporadic. The coding regions of 14 genes were resequenced in 311 to 324 probands in five studies. Ninety-two probands were found to carry nonsynonymous rare variants absent in controls, and with Clinical Laboratory Improvement Amendment of 1988 (CLIA) compliant protocols, relevant genetic results were returned to these probands and their consented relatives by study genetic counselors and physicians in 353 letters. In 10 of the 51 families that received results >1 year ago, at least 23 individuals underwent CLIA confirmation testing for their family’s rare variant. Return of genetic results has been successfully undertaken in the FDC Research Project. This report describes the methods utilized in the process of returning research results. We use this information as a springboard for providing guidance to other genetic research groups and proposing future directions in this arena.
dilated cardiomyopathy; genetics; family studies; return of results; genetic counseling
Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8%), followed by Breast/Ovarian Cancer (15.0%). In the past 6 months, 65% had counseled patients on genetic issues, 44% had ordered genetic tests, 38.5% had referred patients to a genetic counselor or geneticist, and 27.5% had received ads from commercial labs for genetic testing. Only 4.5% had tried to hide or disguise genetic information, and <2% have had patients report genetic discrimination. Only 53.4% knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7%) and guidelines for genetic testing (87.1%). Most felt needs for more training on when to order tests (79%), and how to counsel patients (82%), interpret results (77.3%), and maintain privacy (80.6%). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (p<.001), and if physicians had a geneticist/genetic counselor to whom to refer patients (p<.002), had referred patients to a geneticist/genetic counselor in the past 6 months, had more comfort counseling patients about testing (p<.019), counseled patients about genetics, larger practices (p<.032), fewer African-American patients (p<.027), and patients who had reported genetic discrimination (p<.044). In a multiple logistic regression, ordering a genetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests., These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education.
genetic testing; medical education; doctor-patient communication; ethics; genetic discrimination; decision-making; genetic counseling
Much of the extant literature addressing the psychosocial aspects of BRCA1/2 mutation testing and risk management aggregates mutation carriers of all ages in study recruitment, data analysis, and interpretation. This analytic strategy does not adequately address the needs of the youngest genetic testing consumers, i.e., women aged 18–25. Despite low absolute cancer risk estimates before age 30, BRCA1/2 mutation-positive women aged 18–25 feel vulnerable to a cancer diagnosis but find themselves in a management quandary because the clinical utility of screening and prevention options are not yet well defined for such young carriers.
We present three cases, selected from a larger study of 32 BRCA1/2 mutation-positive women who completed or considered genetic testing before age 25, to demonstrate the unique developmental, relational and temporal influences, as well as the challenges, experienced by very young BRCA mutation-positive women as they complete genetic testing and initiate cancer risk management. The first case describes the maturation of a young woman whose family participated in a national cancer registry. The second addresses the experiences and expectations of a young woman who completed genetic testing after learning that her unaffected father was a mutation carrier. The third case highlights the experiences of a young woman parentally bereaved in childhood, who presented for genetic counseling and testing due to intense family pressure.
Together, these cases suggest that BRCA1/2-positive women aged 18–25 are challenged to reconcile their burgeoning independence from their families with risk-related support needs. Loved ones acting in ways meant to care for these young women may inadvertently apply pressure, convoluting family support dynamics and autonomous decision-making. Ongoing support from competent healthcare professionals will enable these young women to remain informed and receive objective counsel about their risk-management decisions.
BRCA1/2 genetic mutations; hereditary cancer; family relations; human development; genetic testing stress; family influence on genetic testing
Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients’ ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants’ interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined “SNP”, and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions.
The majority of participants (75%) were “very” or “somewhat interested” in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85%) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.
Attitudes; Colorectal cancer risk; Focus group; Genomics; Singl-enucleotide polymorphisms; Translational research
Most children with chromosome 22q11.2 deletion syndrome (22q11DS) have an IQ in the range that may allow them to be capable of understanding a genetic diagnosis despite mild intellectual disabilities. However, there are no publications that relate to the disclosure of a 22q11DS diagnosis to the affected child, or the factors that influence parents’ disclosure to the child. A pilot study was conducted including eight semi-structured interviews with caregivers of children with 22q11DS, 10 to 17 years of age, to investigate the factors that influence how parents inform their children of the diagnosis. Six of eight participants had disclosed the diagnosis to the child, and most of these parents felt they could have benefited from additional advice from professionals to increase their confidence and success, as well as the child’s comprehension of the information. Those who had not informed the child were uncertain about the words to use, how to initiate the conversation, or were concerned about the child’s level of understanding. Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support.
22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; information sharing; family communication; genetic counseling; qualitative research
It is predicted that the rapid acquisition of new genetic knowledge and
related applications during the next decade will have significant implications
for virtually all members of society. Currently, most people get exposed to
information about genes and genetics only through stories publicized in the
media. We sought to understand how individuals in the general population used
and understood the concepts of ‘genetics’ and
‘genes.’ During in-depth one-on-one telephone interviews with
adults in the U.S., we asked questions exploring their basic understanding of
these terms, as well as their belief as to the location of genes in the human
body. A wide-range of responses was received. Despite conversational familiarity
with genetic terminology, many noted frustration or were hesitant when trying to
answer these questions. In addition, some responses reflected a lack of
understanding about basic genetic science that may have significant implications
for broader public education measures in genetic literacy, genetic counseling,
public health practices, and even routine health care.
genetic counseling; genetic education; genetic literacy; public understanding of genetics
Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.
Genetic counseling; Type 2 diabetes; Polygenic risk counseling; Diabetes prevention
The increasing incidence of breast cancer in the Arab world, coupled with a relatively early age of onset, raises concern for the presence of hereditary risk factors in this population. However, due to potential structural and cultural barriers, Arab Americans make up the smallest percentage of individuals tested for Hereditary Breast and Ovarian Cancer Syndrome in the United States. The objectives of this qualitative pilot focus group of 13 Arab-American women were to explore attitudes, knowledge and beliefs regarding hereditary breast cancer in the Arab-American community in metropolitan Detroit, identify barriers that would prevent women from seeking hereditary cancer screening/testing and determine who women would talk to about inherited cancer. Results indicated that cultural beliefs and personal experiences with cancer influenced the women’s perspectives on hereditary cancer risk. A high level of secrecy about cancer within Arab-American families was present, which may prevent accurate risk assessment and referral for genetic services. Other identified barriers that may influence hereditary risk assessment included stigma, fears and misconceptions of cancer. While these barriers were present, participants also expressed a strong need for education and tailored cancer risk information for their community.
Arab-American; Hereditary breast cancer; Cancer risk; Cancer screening; Genetic counseling
The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium’s database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.
chromosomal microarray; array CGH; clinical utility; ISCA Database; phenotype information
Low rates of genetic counseling among African American women have generated concerns about disparities; however, to the extent that women’s decisions to accept or decline counseling are consistent with their values, then lower participation may reflect preferences and not disparities.
We evaluated the extent to which women were satisfied with their decision about participating in genetic counseling for BRCA1/2 mutations and identified variables that were associated significantly with satisfaction.
Prospective study of decision satisfaction with 135 African American women who had a minimum 5% prior probability of having a BRCA1/2 mutation. Decision satisfaction was evaluated one month after women were offered participation in genetic counseling using a structured questionnaire.
Women were satisfied with their participation decision; more than 80% reported that their decision was consistent with their family values. However, women who declined pre-test counseling had significantly lower satisfaction scores.
Our findings highlight the importance ensuring that racial differences that are due to preferences and values are not misclassified as disparities in order to identify and address the root causes of disparate treatment.
African American; Participation; Genetic Counseling; BRCA1/2; Disparities
To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families’ perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family’s experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history. This may impede the establishment of a therapeutic alliance. As research shows that most referrals for genetic counseling related to serious mental illness are for female first-degree family members of affected individuals, we sought to explore how this group perceives serious mental illness. To provide a frame of reference with which genetic counselors may be more familiar, we explored how women perceived serious mental illness compared to other common complex disorders in their family. We conducted semi-structured interviews with women who had a child with a serious mental illness (schizophrenia, schizoaffective disorder, bipolar disorder) and a first-degree relative with another common complex disorder (diabetes, heart disease, cancer). Interviews were transcribed and subjected to thematic analysis. Saturation was reached when nine women had participated. Serious mental illness was perceived as being more severe and as having a greater impact on the family than diabetes, heart disease, or cancer. Themes identified included guilt, stigma, and loss. Some of the most important issues that contribute to mothers’ perceptions that serious mental illness is more severe than other common complex disorders could be effectively addressed in genetic counseling. Developing a heightened awareness of how family members experience a relative’s mental illness may help genetic counselors to be better able to provide psychosocial support to this group, whether serious mental illness constitutes the primary reason for referral or appears in the family history during counseling for a different referral reason.
PMID: 22089936 CAMSID: cams3093
stigma; guilt; psychiatric disorders; schizophrenia; bipolar disorder; serious mental illness; perceptions of mental illness
Clinical genetic testing is available for mutations in BMPR2 associated with pulmonary arterial hypertension (PAH). The aim of this study is to assess attitudes of individuals affected by or at risk for PAH regarding genetic testing. Structured telephone interviews were conducted with 119 individuals affected by or at risk for PAH recruited from pulmonary hypertension clinic at Vanderbilt, Vanderbilt familial PAH registry, attendees at 2006 PHA meeting, and a local PAH support group. Sixty-four percent reported knowing little or nothing about BMPR2 testing. Predictors of greater self-assessed knowledge included having an affected family member and learning about BMPR2 testing through the internet. Most respondents reported that while they spent some time thinking about being tested for BMPR2, they had little trouble deciding. The most frequently cited reason for testing was to provide information for their children. About 20% said they had been tested, even though <5% have actually received clinical testing. Although patients with PAH and their at-risk relatives typically feel relatively uninformed about testing for mutations in BMPR2 and at times are confused about their testing status, they nonetheless report that it is easy to decide about testing.
Genetic predisposition testing; Pulmonary hypertension; Ethics
Risk communication is an important component of genetic counseling. However, many authors have noted that after genetic counseling, subjective risk frequently does not match the objective risk provided by the counselor. This inevitably leads to the conclusion that the risk communication process was not “effective”. There has been much discussion about how this problem can be better addressed, such that our clients recall numeric risks more accurately after genetic counseling. This article draws on the risk and probability literature from other fields (including psychology, economics, philosophy and climate change) to deconstruct the concept of “risk” and to attempt to expand upon and develop thought and discussion about and investigation of the risk communication process in genetic counseling.
PMID: 20119700 CAMSID: cams3085
risk assessment; risk perception; risk communication; probability; clinical genetics
Many people, including genetic counselors (GCs), have been found to hold stigmatizing attitudes towards people with mental illnesses. We aimed to determine whether these attitudes could be changed by exposing GCs/GC students to a documentary film about people with mental illness. We screened the documentary at the 2010 North American conferences for GCs. Immediately before (T1), immediately after (T2), and one month after (T3) watching the documentary, participants self-rated their comfort with asking patients about mental illness, and completed scales measuring two aspects of stigma: stereotype endorsement (SE) and desire for social distance (SD). A total of 87 T1 and T2 questionnaires, and 39 T3 questionnaires were returned. At T2 and T3, 34.5% and 48.7% respectively reported feeling more comfortable to ask patients about mental illness. Scores on SD and SE scales decreased significantly from T1 to T2, but returned to initial levels at T3. The documentary increased GC/GC students’ comfort with asking about mental illness and temporarily decreased stigmatizing attitudes.
PMID: 22037897 CAMSID: cams3090
Stigma; mental illness; genetic counseling; genetic counselor; documentary; schizophrenia; bipolar disorder; social distance; stereotype endorsement
Genetic counselors and parents of individuals with Down syndrome (DS) agree that descriptions of DS in prenatal settings should be “balanced.” However, there is no consensus regarding what constitutes a balanced description of DS.
A survey was designed in collaboration with, and sent to the membership of, the British Columbia based Lower Mainland Down Syndrome Society (N=260). Respondents were asked how they would describe DS to a couple who have just received a prenatal diagnosis of the condition. We rated the descriptions provided for positivity/negativity.
Completed surveys were returned by 101 members, the majority of whom were Caucasian (87%) and female (79%). Participants’ descriptions of DS ranged from entirely positive (n = 5; 10%) to entirely negative (n = 4; 7%) in nature.
Deriving a description of DS that would broadly be perceived as “balanced” may be impossible. Instead, it may be more important to explore the range of possibilities regarding the family experience of raising a child with DS using nonjudgmental terminology, and to help families evaluate these possibilities in the context of their own values, coping strategies, and support networks.
PMID: 22183831 CAMSID: cams3091
DOWN SYNDROME; BALANCED DESCRIPTION; BALANCED INFORMATION; PARENTS; OPINIONS; PRENATAL SCREENING; PRENATAL DIAGNOSIS; GENETIC COUNSELING
Most of the research on reproduction in those at risk for Huntington Disease (HD) has focused on the impact of genetic testing on reproductive decision-making. The main goal has been to determine whether discovering one is a carrier of the HD mutation changes an individual’s or couple’s decision to start a family or to have more children. The purpose of this qualitative study was to examine reproductive decision-making in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. PHAROS (Prospective Huntington At Risk Observational Study) is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of HD in a sample of individuals at 50% risk who have chosen not to pursue genetic testing. Data for this article were obtained from unstructured open ended qualitative interviews of a subsample of individuals participating in the PHAROS project. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative descriptive methods to construct and explore reproduction decision-making in three groups of people: 1) those who knew of their risk and decided to have children; 2) those who had children before they knew of their risk, and 3) those who chose not to have children based on their risk. We discuss the delicate balance health care professionals and genetic counselors must maintain between the benefits of providing hope and the dangers of offering unrealistic expectations about the time in which scientific advances actually may occur.
Genetic disease; Huntington Disease; Reproduction; reproductive decision-making
An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites. Results revealed that benefit statements outweighed risk and limitation statements 6 to 1. The most frequently described benefits were 1) disease prevention, 2) consumer education, 3) personalized medical recommendations, and 4) the ability to make health decisions. Thirty-five percent of websites also presented at least one risk of testing. Seventy-eight percent of websites mentioned at least one limitation of testing. Based on this information, potential consumers might get an inaccurate picture of genetic testing which could impact their ability to make an informed decision. Practices that enhance the presentation of balanced information on DTCGT company websites should be encouraged.
Direct-to-consumer; genetic testing; Internet; informed choice; persuasion; content analysis
The value of genomic risk assessment depends upon patients making appropriate behavioral changes in response to increased risk leading to disease prevention and early detection. To date, few studies have investigated consumers’ response to personalized genomic disease risk information. To address this gap, we conducted semi-structured interviews with 60 adults participating in the Coriell Personalized Medicine Collaborative. The interviews took place after receiving results providing genomic and other risk information for up to eight common complex diseases. We found that participants were most likely to recall results which conferred an increased risk or those of particular personal interest. Participants understood the multi-factorial nature of common complex disease, and generally did not have negative emotional responses or overly deterministic perceptions of their results. Although most participants expressed a desire to use results to improve their health, a minority had actually taken action (behavior change or shared results with their doctor) at the time of the interview. These results suggest that participants have a reasonable understanding of genomic risk information and that provision of genomic risk information may motivate behavior change in some individuals; however additional work is needed to better understand the lack of change seen in the majority of participants.
Personalized medicine; Genomic risk; Qualitative research; Public understanding; genetic testing; direct-to-consumer genetic testing; risk assessment; behavioral change
Much of the qualitative research on Huntington disease has focused on the genetic testing aspects of HD. The overall purpose of this qualitative study was to gather information about the everyday experience of living with the risk of developing Huntington disease in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. Data for this article was obtained from unstructured, open-ended qualitative interviews of a sample of people participating in the PHAROS study. PHAROS, the Prospective Huntington At-Risk Observational Study, is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of Huntington disease in individuals at 50% risk for HD who have chosen not to undergo genetic testing. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative description to construct and explore two main themes: (1) careful concealment of risk as an act of self-preservation and (2) preserving hope.
Disclosure; Genetic disease; Genetic testing; Huntington disease; Risk
People who have tested positive for the expanded Huntington disease (HD) gene who are not yet diagnosed (pre-HD) and their companions report subtle changes in ability of people with pre-HD to do their jobs. However, it is not known whether they attribute these changes to HD. Semi-structured telephone interviews were analyzed from seven persons with pre-HD at different estimated points from diagnosis and six companions. Data were analyzed using qualitative analysis methods.
Participants made attributions related to health, work, and temperament. Only one participant attributed a change to HD. The process of forming attributions was demonstrated through symptom monitoring and comparison of participants with pre-HD to others with and without HD. Participants also expressed uncertainty regarding how to make attributions.
Attributions influence coping procedures, including whether to seek and accept medical treatment. In persons with prodromal HD the relationship between attributions and use of coping strategies for symptoms that interfere with job functioning is unknown.
Huntington disease; Common Sense Model; qualitative research
Huntington disease (HD) includes a prodromal phase with behavioral, cognitive, and motor function decline occurring up to 15 years prior to diagnosis. This study used mixed methods to examine how people with prodromal HD and their companions coped with noticed changes. Twenty-three couples completed a semi-structured interview and Brief COPE. Participants with prodromal HD used acceptance, emotional support, and planning most frequently; companions used acceptance, planning, and active coping. Least frequently used coping strategies for each were denial, behavioral disengagement, and substance use. Qualitative interviews revealed coping strategies not included in the Brief COPE. Participants with prodromal HD used prescription medications, coping as a couple, hope, and self-monitoring; companions used hope and helping their partners. Many of the coping procedures were rated as effective, especially when changes were not severe. Couples may benefit from prodromal HD counseling that emphasizes using active coping strategies for changes that can be compensated for and acceptance for changes that cannot. Findings from this study may be helpful for counseling patients and significant others facing other neurodegenerative conditions with prodromal or early phases, such as Alzheimer disease and Parkinson disease.
Huntington Disease; coping; genetic counseling
Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and health care accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, partly due to the lack of standardized measures available to assess this construct. The purpose of this study was to conduct a psychometric analysis of a new satisfaction measure, the Genetic Counseling Satisfaction Scale (GCSS), within a sample of women participating in a no-cost cancer genetic counseling and testing program. The sample consisted of 61 women undergoing counseling and testing for hereditary breast-ovarian cancer risk (BRCA1/2 testing) who completed the GCSS following pre-test counseling. The results suggest that the GCSS was reliable (Cronbach's coefficient alpha = 0.90) and that participants were highly satisfied with the care they received. In addition, there were no differences in satisfaction between cancer genetic counseling and prenatal counseling participants (based on preexisting norms), and satisfaction did not vary by sociodemographic characteristics. Implications and recommendations are discussed.
patient satisfaction; genetic counseling; breast cancer
BRCA+ breast cancer patients face high risk for a second breast cancer and ovarian cancer. Helping these women decide among risk-reducing options requires effectively conveying complex, emotionally-laden, information. To support their decision-making needs, we developed a web-based decision aid (DA) as an adjunct to genetic counseling. Phase 1 used focus groups to determine decision-making needs. These findings and the Ottawa Decision Support Framework guided the DA development. Phase 2 involved nine focus groups of four stakeholder types (BRCA+ breast cancer patients, breast cancer advocates, and genetics and oncology professionals) to evaluate the DA’s decision-making utility, information content, visual display, and implementation. Overall, feedback was very favorable about the DA, especially a values and preferences ranking-exercise and an output page displaying personalized responses. Stakeholders were divided as to whether the DA should be offered at-home versus only in a clinical setting. This well-received DA will be further tested to determine accessibility and effectiveness.
BRCA1; BRCA2; breast cancer; decision aid; decision-making; genetic counseling; mastectomy; oophorectomy
We examined healthcare providers’ perceptions of genetic counseling and testing in African American women (AAW) at moderate to high-risk of carrying a BRCA1/2 mutation. We conducted 20 in-depth interviews with genetic counselors (n=5), medical oncologists (n=8), obstetrician/gynecologists (n=2) and surgeons (n=5). Interviews were audiotaped, transcribed and independently coded by two coders using a content analysis approach. Seven themes emerged relevant to providers’ perceptions of AAW’s use of BRCA1/2 genetic services: access factors, cultural beliefs and preferences, effects of testing, patient motivators for genetic counseling and testing, patient-provider communication, reasons for provider referral, and reasons for patient refusal. Providers identified individual- and system-level barriers to AAW’s use of genetic services, including lack of follow-up after referrals to genetic specialists and challenges to obtaining financial coverage for under- and uninsured high-risk women. Results have implications for physician and patient education regarding appropriate referrals to and uptake of genetic services in at-risk AAW.
African American women; BRCA1/2; breast cancer genetics; genetic counseling; genetic testing; cancer providers
Fragile X syndrome (FXS) is an inherited genetic condition with critical consequences to the proband and family members at all levels in the generations. Although evidence demonstrates that the rates of diagnosis for FXS are the same in all racial groups, age of diagnosis in African American children has been reported to occur later than in Caucasian children. Additionally, African American families are seriously under-represented in existing FXS research studies. As such, it is important to understand the possible disparities in the underlying factors to receiving a diagnosis in African American families with FXS. Herein, a qualitative approach was adopted to describe the overall FXS diagnosis experiences (pre-diagnosis, diagnosis, and post-diagnosis stages) of a convenience sample of 10 African American mothers. We identified three major findings among our participants: (1) FXS testing is not ordered immediately once a parent expresses concerns of developmental delays to the pediatricians, (2) the diagnosis is sometimes delivered in an insensitive manner with information often being outdated and unbalanced towards negative aspects, (3) communication issues among family members exists once the diagnosis is discovered. Although these qualitative data may not be representative of the whole group, these findings have significant implications for genetic counseling and our understanding in providing support and advocacy for African American families with FXS.
Fragile X syndrome; African American; Diagnosis; Medical support