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1.
J Genet Couns ; 29(1): 18-24, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31553110

RESUMO

Patients at risk for hereditary cancer syndromes sometimes decline clinically appropriate genetic testing. The purpose of the current study was to understand what preferences, concerns, and desires informed their refusal as well as their current level of interest in being tested. We interviewed patients who had been seen in a hereditary cancer clinic at Vanderbilt University Medical Center and had declined genetic testing. In all, 21 in-depth, semi-structured qualitative interviews were conducted. Although patients provided many reasons for declining testing, they most often cited their psychosocial state at the time of the initial invitation to participate in genetic testing as their reason for refusal. The majority (67%) said that they either would or had changed their mind about testing if/when their clinicians 'mentioned it again'. Patients at risk for hereditary cancer who refuse testing at the time of genetic counseling may later change their mind. In particular, if a patient declines testing around the time of a major medical diagnosis or intervention, clinicians who are providing ongoing care may want to raise the topic afresh after the patient has had time to recover from initial distress related to diagnosis or treatment. Strategies to prompt clinicians to have these conversations are suggested.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos , Síndromes Neoplásicas Hereditárias/genética , Adulto , Comunicação , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/psicologia
2.
Cureus ; 15(9): e45883, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37885553

RESUMO

Introduction Clinicians agree with the fact that the impact of genetics in the field of medicine is humongous. They have to cope with the rapid advances in the field of clinical genetics and offer the best treatment to the patients at the right time. Disease with an underlying genetic cause not only involves the patient but also the family and the community. In the process of genetic counseling, the patient and the family are educated about the genetic basis of the disorder. This helps the patient and the family to make a well-informed decision. It also helps to reduce the genetic burden of the disease in the community over a period of time. In this regard, knowledge, attitude, and practice about the process of genetic counseling among clinicians is imperative. Methods A structured pre-validated questionnaire was distributed amongst 60 clinicians from different departments. Their responses were assessed based on the Likert scale. The data obtained were analyzed using descriptive statistics and expressed in percentages.  Results In the present study, nearly 90% of the clinicians felt that it was important to gather a multi-generational family history of the patient and advise them about inheritance patterns, recurrence risk, and genetic tests for a disorder with an underlying genetic cause. The need to educate the family members regarding the importance of genetic tests and referral to appropriate support groups if they test positive for a genetic disorder receive a positive response. Mostly the participants agreed that parents of children and couples at risk of having a child affected by a genetic disease should undergo genetic counseling. Conclusion Clinicians may not always be aware of the underlying genetic cause and genetic tests available or may face a paucity of time to counsel the patient and the family. Genetic counseling needs to be done at length in multiple sessions, and it is essential to reduce the burden of genetic disorders in society.

3.
Cureus ; 14(3): e22966, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35411261

RESUMO

INTRODUCTION: The National Comprehensive Cancer Network (NCCN) has outlined guidelines for criteria regarding genetic testing for high-penetrance breast and/or ovarian cancer susceptibility genes. Due to the lack of availability of genetic counseling services in Northern Michigan prior to COVID-19, the utilization of genetic testing falls well below recommended guidelines. METHODS: Patients diagnosed with breast cancer in 2019 were randomly selected from Ascension Michigan's Northern Ministries Tumor Registry. A retrospective chart review was conducted. For patients who met NCCN criteria, their medical records were used to determine if genetic testing was recommended and if genetic testing was completed. Univariate (Crosstabs and t-tests) and multivariate tests with logistic regression were used to identify significant associations between the variables of interest. RESULTS: One hundred and two (102) patient charts were reviewed in this group; 55 (52.4%) were eligible by the NCCN guidelines for genetic testing. From this eligible subset of patients, only 29 were offered genetic testing, and only 21 were tested. The mean age of the patients offered genetic counseling was 56.2 years compared and 67.6 years in the group not offered counseling (p < 0.001). The patient's insurance type was an independent factor for obtaining genetic testing, specifically, the subgroup who had Medicare (OR = 0.73, CI = 0.01-0.54; p = 0.02). Patients insured through Medicare were less likely to obtain genetic testing after referral to a genetic counselor (p = 0.01). CONCLUSION: Genetic counseling for high-risk breast cancer patients is below average in Northern Michigan, likely related to lack of physician referral, poor availability of counseling services, low socioeconomic status as well as a lower level of concern in older ages.

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