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1.
Cancer J ; 27(6): 417-422, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34904802

RESUMO

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.


Assuntos
Neoplasias , Idoso , Aconselhamento Genético , Testes Genéticos , Humanos , Medicare , Neoplasias/diagnóstico , Neoplasias/genética , Medicina de Precisão , Estados Unidos
2.
Am J Med Genet A ; 182(2): 314-321, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31814270

RESUMO

Studies published over 15 years ago surveyed genetic counselors (GC) and medical geneticists (MG) to examine their clinical experiences with the conflict of "duty to warn" versus patient confidentiality. Federal and state laws pertaining to medical professionals' duty to warn have since been implemented following the publications of these studies. Using a merged version of surveys employed in the prior studies, this study seeks to understand clinicians' current decision-making process when faced with patient refusal to inform at-risk relatives, as well as their familiarity with and opinions of laws and guidelines covering this issue. Consistent with the previous studies, the majority of MG and almost half of GC experience patient refusal. Significantly, fewer MG and GC believe they had a duty to warn their patients' relatives of genetic risk. Only 8% of participants believe current guidelines effectively address the issue of duty to warn. Participant awareness of federal or state laws regulating the disclosure of genetic information remains low. The conflict of duty to warn remains a shared experience among genetics professionals, and resources are needed to facilitate informed decision-making. Participants' opinions of current policies and clinical decisions may guide professional actions regarding duty to warn.


Assuntos
Responsabilidade pela Informação/ética , Aconselhamento Genético/psicologia , Predisposição Genética para Doença , Médicos/psicologia , Confidencialidade/psicologia , Revelação , Família/psicologia , Aconselhamento Genético/ética , Testes Genéticos/normas , Genética Médica/ética , Guias como Assunto , Humanos , Fatores de Risco
3.
Cancer J ; 25(4): 231-236, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31335384

RESUMO

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.


Assuntos
Testes Genéticos/normas , Erros de Diagnóstico , Aconselhamento Genético/métodos , Aconselhamento Genético/normas , Testes Genéticos/métodos , Humanos , Erros Médicos , Uso Excessivo dos Serviços de Saúde , Estados Unidos
4.
Gynecol Oncol ; 154(2): 379-382, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31196574

RESUMO

OBJECTIVE: To compare referral patterns, genetic testing and pathogenic variant rates in Black women (BW) and White women (WW) in a large academic Gynecologic Cancer Risk Assessment Clinic (GCRAC). METHODS: Cross sectional study of an IRB-approved prospective, cohort study from a GCRAC. Data evaluated included: age, race, referral provider specialty and indication, genetic testing frequency, as well as frequency and types of pathogenic variants. RESULTS: 588 WW and 57 BW were evaluated from 1/2010-12/2015. Although approximately one-third of BW and WW were referred for family history alone, referral indications varied. BW were more likely referred for a known pathogenic variant (20.0% vs. 6.2%) although less likely referred for a personal history of ovarian cancer (24.0% vs. 46.8%; p = 0.0023). While gynecologic oncologists referred most patients (BW 43.6% vs. WW 63.0%), BW were more likely to be referred by surgical oncologist (23.0% vs. 12.8%) or genetic counselor (12.8% vs. 5.9%) than WW (p = 0.0234). Referral from non-OBGYN primary care providers was <3% in both groups. Genetic testing rates were similar in both races (82.4% vs. 85.5%). Rates of BRCA1 mutations (12.7% vs. 11.5%) were similar; however, BW had more BRCA2 mutations (21.3% vs. 9.5%; p = 0.0194). CONCLUSIONS: Since BW are more likely to be referred by surgical oncology or genetics counselor, breast clinics might be an entry point to ensure genetic counseling and testing. Continued efforts to increase awareness regarding the importance of patient referral at the primary care level may help identify the subset of women not currently undergoing counseling and testing.


Assuntos
Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Neoplasias Ovarianas , Padrões de Prática Médica/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Adulto , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Estudos Transversais , Feminino , Genes BRCA1 , Genes BRCA2 , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/etnologia , Estudos Prospectivos , Fatores de Risco , Sudeste dos Estados Unidos/epidemiologia , População Branca/estatística & dados numéricos
5.
Gynecol Oncol ; 149(2): 337-340, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29486991

RESUMO

OBJECTIVES: Describe patient characteristics in African American (AA) women seen for gynecologic cancer related genetic counseling at a large southeastern comprehensive cancer center. METHODS: We reviewed an IRB approved, prospective observational cohort of patients from a Gynecologic Cancer Risk Assessment Clinic. Data evaluated included personal cancer history, family history, frequency of genetic testing, frequency/type of genetic mutations, and frequency of surgical intervention. Standard statistical statistics were utilized. RESULTS: 1227 patients were evaluated from 2003 to 2015, of which 95 (7.7%) were AA. Sixteen patients had a personal history of ovarian cancer. 21 women (22%) underwent genetic counseling only; subsequent genetic testing was not recommended based on absence of risk factors. Of the seventy-four AA patients in whom genetic testing was recommended, sixty-six (69.5%) completed testing. Of women tested, 37 (56%) had abnormal results. Eight and 14 patients had pathogenic variants in BRCA1 and BRCA2, respectively. Two were found to have pathogenic PALB2 variants; one had a pathogenic ATM variant and one constitutional MLH1 epimutation case was identified. Eleven had BRCA variants of uncertain significance. Of the patients with abnormal testing, six of 22 women with pathogenic BRCA variants underwent risk-reducing salpingo-oophorectomy (RRSO). CONCLUSIONS: Our study demonstrates that in a region where AAs represent 27% of the population, the proportion of AA patients referred to a Gynecologic Cancer Risk Assessment Clinic remains low. Pathogenic variant and variant of uncertain significance rates were high in patients tested, likely representing a selection bias of high-risk patients. Endeavors should continue to identify minorities at risk for ovarian cancer and institute measures to provide thorough genetic counseling and testing.


Assuntos
Negro ou Afro-Americano/genética , Neoplasias Ovarianas/genética , Adulto , Idoso , Estudos de Coortes , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Anamnese , Pessoa de Meia-Idade , Neoplasias Ovarianas/epidemiologia , Medição de Risco , Sudeste dos Estados Unidos/epidemiologia , Adulto Jovem
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