RESUMEN
Families often express difficulty to their providers and request guidance regarding the task of communicating with children about potential adult-onset inherited cancer risks. This disclosure is often complicated by the parent's ongoing adjustment to their mutation status, guilt at potential transmission of the mutation to the child, concern over inciting distress in children, and the varied capacities of children in the home to understand genetic information. Providers often do not have adequate resources to support or facilitate disclosure of genetic test results to children. Optimally, communication about inherited cancer risk is an open, ongoing process within the family. We recommend that parents tailor conversations to the child's developmental, cognitive, emotional, and behavioral abilities to support comprehension. Based on well-established theories of child development, empirical research on family communication of hereditary cancer risk, and clinical counseling experience, we offer recommendations for parental disclosure of genetic risk to children, case examples with critical discussion of relevant topics, common child questions with sample scripted responses, and additional printed and online resources.
Asunto(s)
Predisposición Genética a la Enfermedad/psicología , Neoplasias/psicología , Relaciones Padres-Hijo , Padres/psicología , Adulto , Niño , Revelación , Femenino , Pruebas Genéticas/estadística & datos numéricos , Humanos , Masculino , Neoplasias/diagnóstico , Neoplasias/prevención & control , Factores de Riesgo , Revelación de la VerdadRESUMEN
The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett, & Ellen T. Matloff.
RESUMEN
Approaches to hereditary breast cancer testing are shifting as multi-gene panels become more widely available. This paper describes our center's experience and outcomes of a 6-gene panel test as a first-tier approach in patients who were candidates for BRCA testing. Between July and December 2013, a 6-gene panel test was ordered for patients meeting criteria for BRCA testing. A retrospective review detailed the mutation and variant of uncertain significance (VUS) rates for the genes analyzed. The mutation rate was 5.2 % (n = 7) and the VUS rate was 6.7 % (n = 9). A subsequent review determined the number of BRCA-negative patients who would have been offered additional single gene testing had BRCA, only, been their first-tier test. Applying consensus criteria revealed 7.1 % (n = 9) cases that met criteria for additional testing. Pedigree analysis by a certified genetic counselor revealed 26.8 % (n = 34) cases that would have been offered additional testing based on personal and/or family history. Our results suggest that this panel may be warranted as a first-tier test for a small subset of patients, but likely represents over testing for the majority of patients who are candidates for BRCA testing. The genes selected for panels, the extra costs per patient and the chance of VUS must be considered before we uniformly switch from BRCA to full panel testing on all patients.
Asunto(s)
Asesoramiento Genético/métodos , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas/métodos , Adulto , Proteína BRCA2/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Análisis Mutacional de ADN , Femenino , Variación Genética/genética , Humanos , Masculino , Estudios Retrospectivos , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
Erratum to: J Genet Counsel DOI 10.1007/s10897-013-9625-z . In the "Funding" section, the company HRA was incorrectly referred to as HSR. The full name of the company is "HRA Healthcare Research & Analytics."
RESUMEN
We surveyed cancer genetics specialists in 1998 to learn what they would do if at 50% risk to carry a BRCA or Lynch syndrome mutation. We chose to repeat our study 14 years later, to examine how perspectives have changed with the extensive data now available. In July 2012 we surveyed the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group via an internet based survey. We found statistically significant increases in the percentage of specialists who: would undergo BRCA testing (p = 0.0006), opt for prophylactic bilateral mastectomy (p =0.0001), opt for prophylactic removal of their uterus and ovaries for Lynch syndrome (p =0.0057 and P = 0.0090, respectively), and bill testing to insurance (p >0.0001). There were also statistically significant decreases in the percentage of participants who would have their colon removed for Lynch syndrome (p = 0.0002) and use an alias when pursuing testing (p > 0.0001). Over the past 14 years there has been a major change in perspective amongst cancer genetic specialists regarding genetic testing, prophylactic surgery and insurance discrimination.
Asunto(s)
Pruebas Genéticas , Cobertura del Seguro , Mastectomía/economía , Ovariectomía/economía , Prejuicio , Adulto , Anciano , Neoplasias de la Mama/genética , Neoplasias de la Mama/cirugía , Femenino , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Ováricas/genética , Neoplasias Ováricas/cirugíaRESUMEN
PURPOSE OF REVIEW: The field of cancer genetics and genetic testing is expanding rapidly. As our understanding of the hereditary nature of endocrine tumors increases, the role of genetic counseling on the multidisciplinary endocrinology team is becoming more critical. This brief review will highlight the role of the certified genetic counselor in this setting. RECENT FINDINGS: Genetic counseling and testing may aid in the management of the endocrine patient through early diagnosis and detection of disease, by optimizing surgical decision-making and improving overall survival. Certified genetic counselors assist the endocrinology team by eliciting a detailed pedigree, determining the appropriate genetic test to order, obtaining informed consent, interpreting complex genetic test results, providing psychosocial and family counseling, and assessing which family members are at risk. Many endocrine tumors can be caused by a variety of different genes and investment in the genetic counseling process likely increases the chance that the correct genetic test is ordered, results are interpreted accurately, and adequate informed consent and counseling is offered. SUMMARY: The field of endocrine genetics is growing exponentially and testing will likely play an even greater role in surveillance, medical management, and surgical decision-making in the next decade. Genetic counseling both pretesting and posttesting is essential to accurate, cost-efficient care for the endocrine patient and the entire family.
Asunto(s)
Asesoramiento Genético , Neoplasia Endocrina Múltiple Tipo 1/diagnóstico , Neoplasia Endocrina Múltiple Tipo 1/genética , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/genética , Endocrinología , Pruebas Genéticas , Humanos , LinajeRESUMEN
PURPOSE: In this ongoing case series, 33 genetic testing cases are documented in which tests were recommended, ordered, interpreted, or used incorrectly and/or in which clinicians faced challenges related to history/reports provided by patients or laboratories. METHODS: An invitation to submit cases of challenges or errors in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, as part of a case series with Precision Oncology News, and via social media (i.e., Facebook, Twitter, LinkedIn). Deidentified clinical documentation was requested and reviewed when available. Thirty-three cases were submitted, reviewed, and accepted. A thematic analysis was performed. Submitters were asked to approve cases before submission. RESULTS: All cases took place in the United States, involved hereditary cancer testing and/or findings in cancer predisposition genes, and involved medical-grade genetic testing, direct-to-consumer testing, or research genetic testing. In 9 cases, test results were misinterpreted, leading to incorrect screening or risk-reducing procedures being performed/recommended. In 5 cases, incorrect or unnecessary testing was ordered/recommended. In 3 cases, incorrect clinical diagnoses were made, or opportunities for diagnoses were delayed. In 3 cases, errors or challenges arose related to medical intervention after testing or reported genetic diagnosis. In 2 cases, physicians provided incorrect information related to the inheritance pattern of a syndrome. In 2 cases, there were challenges related to the interpretation of genetic variants. In 2 cases, challenges arose after direct-to-consumer testing. One case involved test results that should never have been reported based on sample quality. In 1 case, a patient presented a falsified test result. In 5 cases, multiple errors were made. DISCUSSION: As genetic testing continues to become more complicated and common, it is critical that patients and nongenetics providers have access to accurate and timely genetic counseling information. Even as multiple medical bodies highlight the value of genetic counselors (GCs), tension exists in the genomics community as GCs work toward licensure and Medicare provider status. It is critical that health care communities leverage, rather than restrict, the expertise and experience of GCs so that patients can benefit from, and not be harmed by, genetic testing. In order to responsibly democratize genomics, it will be important for genetics and nongenetic health care providers to collaborate and use alternative service delivery models and technology solutions at point of care. To deliver on the promise of precision medicine, accurate resources and tools must be utilized.
Asunto(s)
Neoplasias , Anciano , Asesoramiento Genético , Pruebas Genéticas , Humanos , Medicare , Neoplasias/diagnóstico , Neoplasias/genética , Medicina de Precisión , Estados UnidosRESUMEN
UNLABELLED: Advances in genetics have prompted recommendations that all healthcare providers perform genetic counseling and testing. Some experts are concerned about potential negative outcomes from cancer genetic testing performed without genetic counseling by certified genetics professionals. We report a national series of cases illustrating negative outcomes of cancer genetic testing performed without counseling by a qualified provider. Three major patterns emerged from analysis of these cases: 1) Wrong genetic test ordered, 2) Genetic test results misinterpreted, and 3) Inadequate genetic counseling. Negative outcomes included unnecessary prophylactic surgeries, unnecessary testing, psychosocial distress, and false reassurance resulting in inappropriate medical management. CONCLUSION: With the complexities of cancer genetic counseling and testing, it may be unrealistic to expect all clinicians to provide these services. A more realistic approach is better provider education and a framework in which healthcare providers identify patients who would benefit from a referral to a certified genetic counselor or experienced cancer genetics professional.
Asunto(s)
Errores Diagnósticos , Genes Relacionados con las Neoplasias/genética , Asesoramiento Genético/normas , Pruebas Genéticas/normas , Femenino , Humanos , MasculinoRESUMEN
PURPOSE: In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly. METHODS: An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e., Facebook, Twitter, LinkedIn). Examples highlighted in the invitation included errors in ordering, counseling, and/or interpretation of genetic testing and did not limit submissions to cases involving genetic testing for hereditary cancer predisposition. Clinical documentation, including pedigree, was requested. Twenty-six cases were accepted, and a thematic analysis was performed. Submitters were asked to approve the representation of their cases before manuscript submission. RESULTS: All submitted cases took place in the United States and were from cancer, pediatric, preconception, and general adult settings and involved both medical-grade and direct-to-consumer genetic testing with raw data analysis. In 8 cases, providers ordered the wrong genetic test. In 2 cases, multiple errors were made when genetic testing was ordered. In 3 cases, patients received incorrect information from providers because genetic test results were misinterpreted or because of limitations in the provider's knowledge of genetics. In 3 cases, pathogenic genetic variants identified were incorrectly assumed to completely explain the suspicious family histories of cancer. In 2 cases, patients received inadequate or no information with respect to genetic test results. In 2 cases, result interpretation/documentation by the testing laboratories was erroneous. In 2 cases, genetic counselors reinterpreted the results of people who had undergone direct-to-consumer genetic testing and/or clarifying medical-grade testing was ordered. DISCUSSION: As genetic testing continues to become more common and complex, it is clear that we must ensure that appropriate testing is ordered and that results are interpreted and used correctly. Access to certified genetic counselors continues to be an issue for some because of workforce limitations. Potential solutions involve action on multiple fronts: new genetic counseling delivery models, expanding the genetic counseling workforce, improving genetics and genomics education of nongenetics health care professionals, addressing health care policy barriers, and more. Genetic counselors have also positioned themselves in new roles to help patients and consumers as well as health care providers, systems, and payers adapt to new genetic testing technologies and models. The work to be done is significant, but so are the consequences of errors in genetic testing.
Asunto(s)
Pruebas Genéticas/normas , Errores Diagnósticos , Asesoramiento Genético/métodos , Asesoramiento Genético/normas , Pruebas Genéticas/métodos , Humanos , Errores Médicos , Uso Excesivo de los Servicios de Salud , Estados UnidosAsunto(s)
Neoplasias de la Mama/prevención & control , Genes BRCA1 , Genes BRCA2 , Pruebas Genéticas/economía , Neoplasias Ováricas/prevención & control , Patentes como Asunto , Tecnología Biomédica/economía , Neoplasias de la Mama/economía , Neoplasias de la Mama/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Mutación , Neoplasias Ováricas/economía , Neoplasias Ováricas/genética , Estados UnidosRESUMEN
BACKGROUND: Women with a family history of breast cancer have several menopausal therapy options, including tamoxifen, hormone therapy (HT), alternative medications, or no treatment. This complex decision should be based on each woman's risk to develop breast cancer, menopausal symptoms, preferences, and risks for other conditions. The authors determined the effects of a personalized risk assessment and genetic counseling intervention on knowledge, risk perception, and decision making in a group of healthy women who had a first-degree relative with breast cancer. METHODS: Forty-eight cancer-free menopausal women age > or =40 years who had at least one first-degree relative with breast cancer were randomized to a genetic counseling intervention or control. Intervention participants were given a personalized risk assessment for breast cancer, heart disease, osteoporosis, and uterine cancer based on family history and personal health data. Knowledge, risk perception, and medication usage were measured at baseline, 1 month, and 6 months. RESULTS: Knowledge was higher in the intervention group at both follow-up time points postintervention. Perceived risk for developing breast cancer was significantly lower and more accurate in the intervention group at 1 and 6 months postintervention than at baseline, as was perceived risk of developing heart disease. Although the counseling intervention did affect both knowledge and risk perception, overall, both groups were reluctant to take any form of menopausal therapy. CONCLUSIONS: A personalized risk assessment and genetic counseling intervention improves patient knowledge and risk perception; however, it is unclear that the intervention influenced menopausal treatment decisions.
Asunto(s)
Neoplasias de la Mama/psicología , Toma de Decisiones , Asesoramiento Genético/métodos , Predisposición Genética a la Enfermedad/psicología , Conocimientos, Actitudes y Práctica en Salud , Estado de Salud , Adulto , Anciano , Neoplasias de la Mama/genética , Neoplasias de la Mama/prevención & control , Femenino , Pruebas Genéticas/psicología , Humanos , Persona de Mediana Edad , Educación del Paciente como Asunto/métodos , Medición de Riesgo , Encuestas y Cuestionarios , Salud de la MujerRESUMEN
INTRODUCTION: Nipple aspiration is a noninvasive technique for obtaining breast fluids from the duct openings of the nipple for the evaluation of abnormalities associated with breast cancer. Nipple aspirate fluid (NAF) can be elicited from 48 to 94% of healthy women, and its production has been linked to an increased relative risk for breast cancer development. NAF production has been used in studies to guide the selection of ducts for ductal lavage, a procedure in which ducts are cannulated and flushed with saline to collect cells. In a previous multicenter trial to evaluate intraductal approaches in women at high-risk for breast cancer, NAF production was observed in 84% of the subjects. However, we observed a significantly lower proportion of fluid-yielding subjects in a similar series of high-risk women. The purpose of the present study was to identify variables associated with this reduction. METHOD: Nipple aspiration was performed on 33 high-risk women (defined as having a 5-year Gail model index of more than 1.7, a personal or family history of breast cancer, and/or a BRCA1 or BRCA2 germline mutation) to identify ductal orifices for lavage procedures. Lavage was performed on all fluid-yielding ducts and on nine non-fluid-yielding ducts. RESULTS: Fluid-yielding ducts were identified in 12 of 33 (36%) of the subjects in the present series, compared with 16 of 19 (84%) of the subjects undergoing identical procedures at our facility during a multicenter trial (P = 0.001). Reduced NAF yields were associated with postmenopausal status (P = 0.02), BRCA germline mutations (P = 0.004), and risk reduction therapies, including bilateral salpingo-oophorectomy (BSO) and/or selective estrogen receptor modulators (SERMs; P = 0.009). All nine (100%) of the ductal lavage specimens collected from non-fluidyielding ducts were acellular, in comparison with 3 of 13 specimens from fluid-yielding ducts (P < .001). CONCLUSION: Analysis of high-risk women in the present series revealed patterns of reduced NAF production and ductal lavage cellularity compared with a previous multicenter trial. The present series included more BRCA-positive women, many of whom had undergone BSO and/or were using SERMs. Our data suggest that endocrine mechanisms associated with these risk-reducing therapies may be related to patterns of diminished breast fluid production.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Pezones/patología , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja , Líquidos Corporales/citología , Femenino , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Persona de Mediana Edad , Pezones/metabolismo , Factores de Riesgo , Irrigación TerapéuticaRESUMEN
Cancer genetic testing is surrounded by myriad ethical, legal, and psychosocial implications which are being revisited as testing expands into an everyday practice and into more complicated areas like whole exome and direct-to-consumer testing. We chose to survey cancer genetic counselors and physicians from a wide range of non-genetics specialties to determine what they would do if faced with the complex decisions associated with cancer genetic testing, how their views compare, and how they align with current guidelines and data. Genetic counselors were significantly more likely than non-genetics physicians to bill their insurance for testing (94.9 vs. 86.8 %; p = 0.001) and purchase life insurance before testing (86.6 vs. 68.6 %; p = 0.000) and were less likely to use an alias (3.2 vs. 13.2 %; p = 0.000) or order testing on their own DNA (15.3 vs. 24.2 %; p = 0.004). They were also less likely to test their minor children (0.9 vs. 33.1 %; p = 0.000) or test their children without their knowledge and consent/assent (1.4 vs.11.5 %; p = 0.000). The results of our study indicate that there is wide variation regarding what clinicians predict they would do in the areas of ethical, legal and psychosocial issues in cancer genetic testing. Cancer genetic counselors' choices are more aligned with professional guidelines, likely due to their experience in the field and awareness of current guidelines. These data are a starting point for a broader discussion of who should offer cancer genetic counseling and testing to patients, particularly as the complexity of the available testing options and associated issues increase with whole exome sequencing.
Asunto(s)
Consejo/ética , Asesoramiento Genético/ética , Pruebas Genéticas/ética , Neoplasias/genética , Médicos/ética , Adulto , Niño , Femenino , Predisposición Genética a la Enfermedad/genética , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Persona de Mediana EdadRESUMEN
After repeated media attention in 2013 due to the Angelina Jolie disclosure and the Supreme Court decision to ban gene patents, the demand for cancer genetic counseling and testing services has never been greater. Debate has arisen regarding who should provide such services and the quality of genetics services being offered. In this ongoing case series, we document 35 new cases from 7 states (California, Connecticut, Florida, Georgia, Missouri, Pennsylvania, and Utah) and the District of Columbia of adverse outcomes in cancer genetic testing when performed without the involvement of a certified genetic counselor. We identified 3 major themes of errors: wrong genetic tests ordered, genetic test results misinterpreted, and inadequate genetic counseling. Patient morbidity and mortality were an issue in several of these cases. The complexity of cancer genetic testing and counseling has grown exponentially with the advent of multigene panels that include rare genes and the potential for more variants of uncertain significance. We conclude that genetic counseling and testing should be offered by certified genetics providers to minimize the risks, maximize the benefits, and utilize health care dollars most efficiently.
Asunto(s)
Neoplasias/diagnóstico , Neoplasias/genética , Adulto , Anciano , Atención a la Salud/economía , Atención a la Salud/métodos , Femenino , Asesoramiento Genético/economía , Asesoramiento Genético/métodos , Pruebas Genéticas/economía , Pruebas Genéticas/métodos , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/economía , Medición de Riesgo/economía , Medición de Riesgo/métodos , Adulto JovenRESUMEN
Cancer genetic counseling and testing are now integral services in progressive cancer care. There has been much debate over whether these services should be delivered by providers with specialized training in genetics or by all clinicians. Adverse outcomes resulting from cancer genetic counseling and testing performed by clinicians without specialization in genetics have been reported, but formal documentation is sparse. In this review, we present a series of national cases illustrating major patterns of errors in cancer genetic counseling and testing and the resulting impact on medical liability, health care costs, and the patients and their families.
Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Conocimientos, Actitudes y Práctica en Salud , Neoplasias/genética , Errores Diagnósticos , Femenino , Asesoramiento Genético/economía , Asesoramiento Genético/ética , Asesoramiento Genético/legislación & jurisprudencia , Asesoramiento Genético/normas , Predisposición Genética a la Enfermedad , Pruebas Genéticas/economía , Pruebas Genéticas/ética , Pruebas Genéticas/legislación & jurisprudencia , Pruebas Genéticas/normas , Humanos , Responsabilidad Legal , Errores Médicos , Medición de Riesgo , Procedimientos InnecesariosRESUMEN
We retrospectively studied BRCA carriers with a history of prophylactic bilateral salingo-oophorectomy (PBSO) regarding: (1) their post-operative symptoms, (2) their recollection of pre-operative conversations with their health care providers regarding possible surgical side-effects and (3) what information they would have found helpful to have before surgery. Female BRCA carriers seen through the Yale Cancer Genetic Counseling Program who had PBSO were invited to participate in a questionnaire that assessed their recall of information they received pre-operatively compared with their post-operative knowledge and symptoms related to menopause, cognitive changes, loss of fertility, cancer risks, osteoporosis, heart disease, vasomotor symptoms, urogenital symptoms, sexuality and body image. The questionnaire also elicited written feedback from participants regarding their decision to have PBSO, what they wished they had known before surgery, advice for other BRCA carriers considering this surgery and advice for health care providers who counsel women about PBSO. Two hundred and ninety female BRCA carriers were invited to participate and 113 (39.0%) indicated they were interested. Of those, 99 (87.6%) returned their questionnaire and 98 (86.7%) responses were included in the analysis. The mean age at PBSO was 45.5 years (range: 32-63 years). The five most common "frequent" or "very frequent" post-surgical symptoms were: vaginal dryness (52.1%), changes in interest in sex (50.0%), sleep disturbances (46.7%), changes in sex life (43.9) and hot flashes (42.9%). The majority of women would have found it helpful to have more information regarding the impact of this surgery on their sex life (59.2%), the availability of sex counseling (57.1%) and the risk of coronary heart disease (57.1%). This study illustrates that while health care providers are discussing selected side effects of PBSO, women undergoing this surgery have other concerns that should be addressed. This information provides insights into the informational needs of BRCA carriers considering PBSO.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/psicología , Neoplasias de la Mama/cirugía , Predisposición Genética a la Enfermedad , Mutación/genética , Ovariectomía/psicología , Adulto , Anciano , Neoplasias de la Mama/complicaciones , Toma de Decisiones , Femenino , Asesoramiento Genético , Heterocigoto , Sofocos , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Encuestas y Cuestionarios , Salud de la MujerRESUMEN
Clinical genetic testing for BRCA1 and BRCA2 has become available in the past 15 years, and it has been established that female BRCA carriers have a high lifetime risk to develop both breast and ovarian cancer. Predisposition testing makes it possible to predict risk in families and to tailor medical management accordingly. In addition to close surveillance, prophylactic mastectomy and oophorectomy are primary risk reduction strategies offered to BRCA carriers. Although the emphasis of research thus far has been on the efficacy of surveillance and risk reduction strategies, it has become clear that genetic testing and the resulting medical decisions around risk reduction lead to a unique set of emotional, physical, and sexual issues for female BRCA carriers and their children. This article will focus on those issues in unaffected female BRCA carriers.
Asunto(s)
Imagen Corporal , Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Sexualidad , Neoplasias de la Mama/prevención & control , Neoplasias de la Mama/psicología , Toma de Decisiones , Trompas Uterinas/cirugía , Femenino , Fertilidad , Tamización de Portadores Genéticos , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Relaciones Interpersonales , Matrimonio , Mastectomía , Mutación , Neoplasias Ováricas/prevención & control , Ovariectomía , Embarazo , Desarrollo SexualAsunto(s)
Asesoramiento Genético , Pruebas Genéticas , Neoplasias/genética , Detección Precoz del Cáncer/métodos , Detección Precoz del Cáncer/tendencias , Genes BRCA1 , Genes BRCA2 , Asesoramiento Genético/psicología , Asesoramiento Genético/tendencias , Pruebas Genéticas/tendencias , Humanos , Neoplasias/diagnósticoRESUMEN
BACKGROUND: Menopausal women with a family history of breast cancer have several treatment options, including tamoxifen, raloxifene, and hormone therapy. This complex decision should be based on each woman's risk to develop breast cancer, menopausal symptoms, preferences, and risks for other conditions. Current models in use do not include pedigree analysis, personalized risk assessment, or genetic testing in this process. METHODS: We created a personalized risk assessment and genetic counseling intervention for healthy women with a first-degree relative with breast cancer. Participants were given a personalized risk assessment for breast cancer, heart disease, osteoporosis, and uterine cancer based on family history and personal health data. COUNSELING MODEL: The effectiveness of this novel genetic counseling intervention was demonstrated in a randomized trial and these results are published elsewhere. The framework for this counseling model, with case examples from the clinical trial, is outlined in this article. CONCLUSIONS: As more menopausal therapies are developed, each with its own risks and benefits, it will become even more critical to have a personalized counseling model for use in this process. Clinicians and educators can utilize the framework presented here for counseling women with a family history of breast cancer.