RESUMO
Healthcare professionals rely on national organizations for guidance; the National Society of Genetic Counselors (NSGC) and the National Comprehensive Cancer Network (NCCN) have differing guidelines for acceptable pedigree symbols to represent transgender patients and minimal recommendations for gender non-conforming (GNC) patients. Inconsistency in accepted pedigree symbols to represent these patients is a barrier to providing them appropriate care. We assess variability in pedigree practice among genetic counselors and students, as well as reported education on serving the needs of the transgender and GNC communities, through a survey distributed through NSGC. Participants felt symbols similar to NSGC's (41.1%) and NCCN's (29.7%) recommendations for transgender patients are appropriate and emphasized a desire to affirm gender identity. We identified greater variability in symbols representing a GNC patient; 19.2% of participants selected 'other', explaining they were unsure of the appropriate choice. A high interest (99%) in further training demonstrates a recognition of education as an effective strategy for improving awareness and competency. Promotion of existing resources could help address the fact that 81% of participants were unaware of any standardized symbols used to represent transgender individuals. Creating affirming, standardized pedigree nomenclature is necessary for appropriate and consistent care.
Assuntos
Aconselhamento Genético , Terminologia como Assunto , Pessoas Transgênero , Confidencialidade , Conselheiros , Feminino , Humanos , Masculino , LinhagemRESUMO
The genetic counseling profession began shortly after the Civil Rights Movement, before effective strategies for inclusion of racial minorities had emerged. Given the historical context of the field and the continued lack of diversity in the professional body, inclusion among genetic counselors of social minority backgrounds is important to examine and address. A group of genetic counselors in the Boston area with social minority backgrounds initiated the Boston Minority Genetic Counselors (BMGC) group to bolster interconnection and support for themselves and their local genetic counselors and trainees of social minority backgrounds. In this paper, we describe the formation of the BMGC and its ongoing work. Future directions include using the BMGC model and/or that of similar organizations, such as the Minority Genetic Professionals Network, as a template to create similar genetic counseling groups that provide support around topics of social minority identities and promote sentiments of inclusion across the profession.
Assuntos
Aconselhamento Genético/organização & administração , Grupos Minoritários , Boston , Conselheiros , Feminino , HumanosRESUMO
Through self-reflection, self-education, and with a learning mindset each of us has embarked on a personal path to understand the impact of racism in our personal and professional lives. This personal work is ongoing, though it was through our individual paths that led us to engage in dialogue on race and racism at the 38th National Society of Genetic Counselors Annual Conference. We initially did not know each other; however, we were drawn by a mutual desire to further the conversation and sought connection with each other after the Conversations Around Diversity Platform Presentations. Through sustained, open dialogue we created a brave space for sharing our emotional and intellectual responses to the conference. Through this dialogue and through written reflections, we recognized an emboldened urgency to author a joint reflection on our shared responsibility as genetic counseling training program leaders to use our privilege in service to our students and future students. We have the evidence that we are not a diverse profession. We have more evidence now than we did before that our profession performs poorly with regards to inclusivity. Our inability to acknowledge, address, and discuss racism and other forms of oppression is damaging to each of us individually and as a group of professionals. We owe it to ourselves, our students, our patients, and colleagues to name our learned biases and behaviors, own them and interrupt them.
Assuntos
Diversidade Cultural , Aconselhamento Genético , Conselheiros/psicologia , Humanos , EstudantesRESUMO
As genetic testing for hereditary cancer syndromes has transitioned from research to clinical settings, research regarding its accompanying psychosocial effects has grown. Men and women being tested for hereditary cancer syndromes may experience some psychological distress while going through the process of testing or after carrier status is identified. Psychological distress appears to decrease over the course of the first year and it is typically not clinically significant. Longer term studies show mixed results with some mutation carriers continuing to experience elevated distress. Baseline distress is the greatest risk factor for both immediate (weeks-12 months) and long-term psychological distress (18 mo-8 years post genetic testing). In addition to baseline psychological distress, other risk factors can be identified to help identify individuals who may need psychosocial interventions during the genetic testing process. The challenges of providing clinical care to the growing population of individuals identified to be at increased risk for heritable cancers present opportunities for research and new models of care.
Assuntos
Testes Genéticos , Neoplasias/genética , Neoplasias/psicologia , HumanosAssuntos
Dor Abdominal/etiologia , Adenocarcinoma/patologia , Adenosina Trifosfatases/genética , Colo/patologia , Neoplasias do Colo/patologia , Enzimas Reparadoras do DNA/genética , Distúrbios no Reparo do DNA/patologia , Proteínas de Ligação a DNA/genética , Adenocarcinoma/complicações , Adenocarcinoma/genética , Criança , Colectomia , Neoplasias do Colo/complicações , Neoplasias do Colo/genética , Doença de Crohn/diagnóstico , Reparo de Erro de Pareamento de DNA , Distúrbios no Reparo do DNA/genética , Diagnóstico Diferencial , Feminino , Febre/etiologia , Humanos , Intussuscepção/diagnóstico , Masculino , Endonuclease PMS2 de Reparo de Erro de Pareamento , Síndromes Neoplásicas Hereditárias , LinhagemAssuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Bócio Nodular , Síndrome do Hamartoma Múltiplo/patologia , Glândula Tireoide/patologia , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Tumor Filoide/patologia , Recidiva , Nódulo da Glândula Tireoide , Língua/patologiaRESUMO
Birt-Hogg-Dube (BHD) disease is an autosomal dominant cancer syndrome characterized by benign skin tumors, renal cancer and spontaneous pneumothorax and is caused by mutations in the Folliculin (FLCN) gene. Benign skin tumors and pneumothorax occur in the majority of patients affected by BHD syndrome, but only 30-45% of them develop renal cell carcinoma (RCC) with a median age of diagnosis at 48. The earliest onset of RCC in a BHD patient has been reported at age 20. Here we report a case of a 14 year-old patient with germline FLCN mutation leading to an early-onset bulky RCC that could not be classified strictly according to existing histological types. Germline genetic testing revealed a deletion at FLCN exon 5. The father of the patient was identified as the asymptomatic carrier. We report the youngest patient with BHD-related RCC. This early onset presentation supports genetic testing of at-risk patients and initiation of imaging surveillance for RCC in early adolescence. In addition, future studies are necessary to understand the determinants of reduced penetrance in BHD disease.
Assuntos
Síndrome de Birt-Hogg-Dubé/genética , Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Idade de Início , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/patologia , Éxons/genética , Feminino , Mutação em Linhagem Germinativa , Humanos , Rim/patologia , Rim/ultraestrutura , Neoplasias Renais/diagnóstico , Neoplasias Renais/patologia , Microscopia Eletrônica , Deleção de Sequência , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND & AIMS: Thyroid carcinoma is an extraintestinal manifestation of familial adenomatous polyposis (FAP) syndrome, but the precise risk is unknown. The optimal approach for thyroid cancer screening has not been established. We sought to define the prevalence of thyroid cancer and the role of screening ultrasound in FAP patients. METHODS: We performed a retrospective chart review of 51 patients with a proven diagnosis of FAP at a single tertiary institution. Clinical records, genetic test results, ultrasound examinations, and histopathology were reviewed. RESULTS: Papillary thyroid cancer was diagnosed in 6 female patients (12%). The mean age of thyroid cancer diagnosis was 33 years, and mean tumor size was 12 mm. However, all patients had additional malignant foci that were small (1-9 mm), and none had suspicious features of malignancy on ultrasound. Of 28 patients who had at least one screening ultrasound, 22 (79%) had thyroid nodules, and 2 (7%) had papillary thyroid carcinoma. Of those with nodules, 68% had multinodular disease. A follow-up ultrasound in 12 patients after a mean of 15 months revealed no changes in either the number or size of nodules. CONCLUSIONS: The 12% prevalence of thyroid cancer in this series of FAP patients is significantly higher than in previous reports. Among patients undergoing screening ultrasound, 7% had thyroid cancer. Nodular thyroid disease is very common in FAP. Because small nodules (<9 mm) might also be malignant, close follow-up with ultrasound and fine-needle aspiration might be warranted.
Assuntos
Polipose Adenomatosa do Colo/epidemiologia , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/epidemiologia , Programas de Rastreamento/métodos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/epidemiologia , Polipose Adenomatosa do Colo/diagnóstico , Adulto , Distribuição por Idade , Biópsia por Agulha , Carcinoma Papilar/cirurgia , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Medição de Risco , Sensibilidade e Especificidade , Distribuição por Sexo , Análise de Sobrevida , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Resultado do Tratamento , Ultrassonografia DopplerAssuntos
Sistema Nervoso Central/patologia , Feocromocitoma/genética , Doença de von Hippel-Lindau/diagnóstico , Neoplasias das Glândulas Suprarrenais , Adulto , Neoplasias do Sistema Nervoso Central/patologia , Diagnóstico Diferencial , Evolução Fatal , Mãos , Humanos , Hipertensão/etiologia , Hipestesia/etiologia , Imageamento por Ressonância Magnética , Masculino , Mutação , Paraganglioma/diagnóstico , Linhagem , Feocromocitoma/diagnóstico , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/patologiaRESUMO
The roles of renal cell carcinoma (RCC) and urothelial cancers of the upper urinary tract are often overlooked as indicators for genetic risk assessment. The key features of 5 hereditary cancer susceptibility conditions involving an increased risk for RCC are discussed. von Hippel-Lindau disease, hereditary papillary RCC, and hereditary leiomyomatosis and RCC each predispose to a specific histological type of RCC, whereas Birt-Hogg-Dubé and hereditary paraganglioma/pheochromocytoma entail a variety of histologic findings. Familiarity with the rare or uncommon clinical features associated with these conditions, such as cutaneous neoplasms, paraganglioma/pheochromocytoma, and recurrent spontaneous pneumothoraces, aids in identifying patients with an underlying RCC susceptibility. A path to identifying syndromic cases lies in thorough investigation of the patient's medical history, their family history, and the histological type of RCC reported in the family. A guide to genetic predisposition testing for RCC is proposed. Upper urinary tract cancers in Lynch syndrome are also discussed.
Assuntos
Testes Genéticos , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Urológicas/genética , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Masculino , Medição de Risco , Neoplasias Urológicas/diagnóstico , Doença de von Hippel-Lindau/genéticaRESUMO
Deleterious mutations in BRCA1 and BRCA2 include those identified by sequencing technology as well as large genomic rearrangements (LGR). The main testing laboratory in the United States, Myriad Genetics Laboratory (MGL), has defined criteria for inclusion of LGR testing (i.e., BRACAnalysis Rearrangement Test, or BART™) when BRCA1 and BRCA2 testing is ordered. We were interested in determining how many of our patients with LGR mutations in BRCA1 and BRCA2 fulfilled these MGL criteria. A retrospective chart review was performed on all individuals who underwent genetic testing at our institution since August 2006. Individuals who underwent LGR testing were classified as either having or not having a LGR in BRCA1 or BRCA2. Each individual's history was classified as meeting MGL defined LGR criteria, meeting criteria using third-degree relatives, or not meeting criteria. A total of 257 BART tests were ordered at our institution from August 2006 to August 2009. Five individuals (1.9%) had an LGR mutation. Two LGR were identified in patients who met MGL defined LGR criteria. One LGR was identified in a patient that met MGL defined LGR criteria only when using third-degree relatives. Two LGR were identified in individuals who did not meet MGL defined criteria. LGR are present in individuals who do not have a high pretest probability of carrying a mutation in BRCA1 or BRCA2. These data suggest that when BRCA1 and BRCA2 genetic testing is performed, testing should always include LGR testing so that the results are the most comprehensive and reliable.
Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Rearranjo Gênico , Testes Genéticos/métodos , Mutação/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/prevenção & controle , Tomada de Decisões Assistida por Computador , Feminino , Predisposição Genética para Doença , Humanos , Prognóstico , Estudos Retrospectivos , Estados UnidosRESUMO
Various models of cancer genetics service delivery have been published, and practice guidelines were set forth by the National Society of Genetic Counselors (NSGC) in 2004. While the demand for services has increased, there has not been a comprehensive study of current practice models. An online survey of the NSGC Familial Cancer Risk Counseling Special Interest Group was conducted to study current methods of providing clinical cancer genetics services. Respondents were asked to quantify patient volume, support staff availability, and physician involvement in cases. Two case examples were used to further describe current practices including the number of genetic counseling tasks performed, time spent in these tasks, and number of in-person visits versus phone encounters. Although published cancer genetic counseling guidelines advise a 3-visit model (initial consult, sample draw, and result disclosure), 29.3% of respondents have adopted a 1-visit model, where the sample is drawn at the first visit and phone disclosure replaces the third visit. The content of the initial consult does not vary significantly, and is consistent with the NSGC practice guidelines. Furthermore, 56% report spending >15 min on case preparation, and 27 respondents self-reported redundancy in tasks such as documentation. It appears that a proportion of genetic counselors are following a new model of service delivery. However, insufficient documentation and case preparation are apparent, and many respondents reported lack of support staff as a barrier to efficient patient care. Factors contributing to the variability in current practice, and how they affect efficiency, require further study.
Assuntos
Aconselhamento/métodos , Aconselhamento/organização & administração , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Neoplasias/genética , Adulto , Aconselhamento/estatística & dados numéricos , Feminino , Aconselhamento Genético/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto JovemRESUMO
In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.
Assuntos
Confidencialidade , Conflito Psicológico , Responsabilidade pela Informação , Aconselhamento Genético , Testes Genéticos , Neoplasias/genética , Neoplasias/prevenção & controle , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/prevenção & controle , Comunicação , Proteínas de Ligação a DNA/genética , Feminino , Efeito Fundador , Genes BRCA1 , Predisposição Genética para Doença , Humanos , Judeus , Mutação , Neoplasias/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , LinhagemRESUMO
PURPOSE: Individuals undergoing genetic testing for BRCA1/2 mutations are routinely counseled about the sensitivity and specificity of testing. In August 2002, testing for 5 large genomic rearrangements in the BRCA1 gene that would not have been detected with full gene sequence analysis became commercially available. We present our data on uptake of the BRCA1 rearrangement panel testing in our clinical cancer genetics program. METHODS: Women who participated in our clinical genetic testing program and had previously received an uninformative negative or variant of uncertain significance result from BRCA1/2 full gene sequencing were invited to consider BRCA1 rearrangement panel testing. RESULTS: Overall, 18/72 individuals underwent BRCA1 rearrangement panel testing. No significant differences were found in the levels of BRCAPRO scores (P = 0.406), age at testing (P = 0.986), number of children (P = 0.35) or number of siblings (P = 0.4) between individuals who chose to pursue additional testing with the rearrangement panel and those who declined. Fisher's Exact Test analysis showed that there is a negative association between having breast or ovarian cancer and being inclined to undergo rearrangement panel testing (P = 0.013). CONCLUSION: Individuals who undergo genetic testing will not consistently pursue additional or enhanced genetic testing. Future research is needed to clearly elucidate the factors associated with uptake of additional genetic testing.
Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Testes Genéticos/psicologia , Mutação , Adulto , Idoso , Algoritmos , Estudos de Coortes , Feminino , Aconselhamento Genético , Testes Genéticos/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pessoa de Meia-Idade , Recusa de Participação/estatística & dados numéricos , Estudos RetrospectivosRESUMO
BACKGROUND & AIMS: Affected individuals with biallelic MYH mutations are believed to display multiple adenomatous polyps without evidence of vertical transmission. Our goal was to determine the detection rate of germline MYH mutations in a high-risk gastrointestinal cancer clinic population by using polyp number as a selection criterion. METHODS: Patients were screened for the 2 most common MYH mutations: Y165C and G382D. The complete MYH coding region was sequenced in cases with a heterozygous mutation. RESULTS: Among 45 patients with more than 15 adenomatous polyps not diagnosed with familial adenomatous polyposis, 7 (15.6%) had biallelic MYH mutations. When 122 participants from a high-risk gastrointestinal cancer clinic who did not fulfill these criteria were tested, 2 additional patients with biallelic mutations were identified. Both had young-onset colorectal cancer (age, <50 y) with fewer than 15 polyps. Surprisingly, most of the 9 patients with biallelic MYH mutations reported family histories consistent with the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), with 7 cases meeting at least 1 of the Bethesda criteria, 5 cases fulfilling 3 Bethesda criteria, and 2 cases fulfilling the Amsterdam II criteria. CONCLUSIONS: Most individuals with MYH mutations exhibit multiple adenomatous polyps. However, 22% of cases were missed when this was the sole criterion for germline testing. A significant number reported a strong family history of cancer that was consistent with HNPCC. MYH testing thus can be considered for patients who meet clinical criteria for HNPCC in the absence of DNA mismatch repair gene mutations.