scholarly journals Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Nehama Cohen-Kfir ◽  
Miriam Ethel Bentwich ◽  
Andrew Kent ◽  
Nomy Dickman ◽  
Mary Tanus ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Personal Autonomy ◽  
Minority Group ◽  
Minority Population ◽  
Minority Ethnic Group ◽  
Cultural Group ◽  
Childbearing Age ◽  
Arab Population ◽  
Testing And Counseling

Abstract Background The Arab population in Israel is a minority ethnic group with its own distinct cultural subgroups. Minority populations are known to underutilize genetic tests and counseling services, thereby undermining the effectiveness of these services among such populations. However, the general and culture-specific reasons for this underutilization are not well defined. Moreover, Arab populations and their key cultural-religious subsets (Muslims, Christians, and Druze) do not reside exclusively in Israel, but are rather found as a minority group in many European and North American countries. Therefore, focusing on the Arab population in Israel allows for the examination of attitudes regarding genetic testing and counseling among this globally important ethnic minority population. Methods We used a qualitative research method, employing individual interviews with 18 women of childbearing age from three religious subgroups (i.e., Druze, Muslim, and Christian) who reside in the Acre district, along with focus group discussions with healthcare providers (HCPs; 9 nurses and 7 genetic counselors) working in the same geographical district. Results A general lack of knowledge regarding the goals and practice of genetic counseling resulting in negative preconceptions of genetic testing was identified amongst all counselees. Counselors’ objective of respecting patient autonomy in decision-making, together with counselees’ misunderstanding of genetic risk data, caused uncertainty, frustration, and distrust. In addition, certain interesting variations were found between the different religious subgroups regarding their attitudes to genetic counseling. Conclusions The study highlights the miscommunications between HCPs, particularly counselors from the majority ethno-cultural group, and counselees from a minority ethno-cultural group. The need for nuanced understanding of the complex perspectives of minority ethno-cultural groups is also emphasized. Such an understanding may enhance the effectiveness of genetic testing and counseling among the Arab minority group while also genuinely empowering the personal autonomy of counselees from this minority group in Israel and other countries.

Genetic Counseling and Testing

2014 ◽  
Author(s):  
Rhona MacLeod ◽  
Aad Tibben
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Practice Guidelines ◽  
Best Practice ◽  
Family Members ◽  
Lessons Learned ◽  
Predictive Test ◽  
Best Practice Guidelines ◽  
Counseling And Testing ◽  
Testing And Counseling

This chapter considers the challenges for clinicians involved in genetic counseling for Huntington’s disease, referring to the literature and best-practice guidelines. The issues involved in genetic testing and counseling around reproductive options are discussed. Ways of tailoring predictive test counseling to take better account of individuals’ experiences and knowledge are explored, and more complex predictive test counseling scenarios, such as requests from minors and individuals at 25% risk, are also covered. The process of assisting families near the time of diagnosis is explored, including ways of helping individuals in apparent denial of symptoms and facilitating communication among family members. Finally, this chapter reflects on lessons learned from our collective experiences and considers areas in which more work is needed.

Assessing comprehensive care deficits in United States (U.S.) ovarian cancer programs to inform quality improvement initiatives.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 256-256
Author(s):  
Matthew Smeltzer ◽  
Monique Dawkins ◽  
Leigh Boehmer ◽  
Sarah Madhu Temkin ◽  
Premal H. Thaker ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Palliative Care ◽  
Clinical Trials ◽  
Quality Improvement ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Multidisciplinary Team ◽  
Gynecologic Oncology ◽  
Financial Counseling ◽  
Testing And Counseling

256 Background: Ovarian cancer is the leading cause of gynecologic cancer mortality in the US. Given the high burden of disease and complexities in the provision of quality care, a multidisciplinary team approach is critical to optimal care delivery. In 2019, the Association of Community Cancer Centers (ACCC) launched a multiphase, stakeholder-driven initiative to improve care for this patient population. Results of a national survey of cancer programs to identify the needs of patients are reported here. Methods: A 20 question survey was developed by an expert steering committee including gynecologic oncologists, pathologists, genetic counselors, a nurse navigator, and cancer center administrators. The instrument was designed to collect data about cancer programs, key ovarian cancer patient needs, and barriers to and opportunities for improving ovarian cancer care. The online survey was open for participation for 4 weeks using the Qualtrics platform and distributed via email to ACCC and Society of Gynecologic Oncology members. Results: We received 26 total responses from Comprehensive Community (26%), NCI-Designed Comprehensive (22%), Academic Comprehensive (22%), and Integrated Network (13%) Cancer Programs. Annual ovarian cancer cases ranged from 22 to 190 (median: 50.5). 85% of programs has a multidisciplinary team for ovarian cancer and 61% were part of a referral network. On average, programs has 1.5 phase II and 2 phase III clinical trials currently available for ovarian cancer (all programs had at least 1 trial available). Palliative care and comprehensive symptom management was integrated into the first appointment (15%), integrated at the time of recurrence (4%), and most frequently, available by consult (81%). We assessed genetic testing practices at each program. Aggregated across programs, 79% of patients received germline multipanel testing, 71% germline BRCA only, 50% somatic multigene, and 51% somatic BRCA only. The frequency of consultations included: genetic counseling (75%), nurse navigation (75%), social work (50%), dietetics (40%), financial counseling (25%). Genetic evaluations were typically ordered by Gynecologic Oncology (88%), genetic counseling (4%), or both (8%). When asked what topic they would choose for a quality improvement project, genetic testing and counseling was the most frequent choice (46%), followed by clinical trials enrollment and availability (23%), multidisciplinary team care (19%), education on best practices (15%), palliative care (15%), and ancillary services (15%). Conclusions: Multidisciplinary care for ovarian cancer was common across a range of cancer programs but integration of palliative care, social work, dietetics, and financial counseling could be improved. Expanding clinical trials and genetic testing and counseling were the most frequently identified opportunities to improve ovarian cancer care.

scholarly journals ¿Un deber de conocer para ser autónomos? Focalizando la atención en la autonomía personal en el derecho a no saber la información genética

2015 ◽  
Vol 64 (4) ◽  
Author(s):  
Yordanis Enríquez Canto
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Information ◽  
Personal Autonomy ◽  
Relevant Information ◽  
Individual Autonomy ◽  
Genetic Condition ◽  
Bioethical Debate ◽  
Right Not To Know ◽  
The Right

En el debate bioético el desafío a la noción de autonomía personal, respecto al acceso a la información genética, se evidencia cuando se intenta dar sentido y proteger un interés en no saber. Tal debate se desarrolla en diversas áreas relacionadas con el uso de la información genética, sin embargo el presente trabajo se focaliza en el contexto de la asesoría genética. Una de las tesis centrales de este debate propone en primer lugar, que el derecho a no conocer la propia condición genética no aumenta el valor de la autonomía individual, sino que lo degrada y, segundo, que una ignorancia deseada respecto a los resultados de las pruebas genéticas es culpable. El artículo constituye una respuesta a las tesis de Rosamond Rhodes y Rodolfo Vázquez. En esta propuesta se realiza una argumentación que sigue un doble esquema. El primero incluye un razonamiento contra aquellos que hacen uso de su derecho a no saber, afirmando que no se puede ser autónomo en las decisiones sin saber toda la información pertinente. El segundo tiene en cuenta la decisión de no saber en relación a otros individuos: concluyendo que la ignorancia genética es irresponsable e incluso culpable. El objetivo del artículo es proponer, en su primera parte, algunas consideraciones críticas respecto a la díada: autonomía - necesidad de información; y en la segunda, realizar un análisis de la estrategia argumentativa que sostiene que la elección de no saber los resultados diagnósticos es una ignorancia incriminatoria. ---------- In the bioethical debate regarding access to genetic information, the challenge to the notion of personal autonomy is evident when attempting to make sense of and to protect a patient’s interest in not knowing. Such a debate takes place in various areas related to the use of genetic information, however the present work focuses on the context of genetic counseling. One of the main theses in this debate suggests first that the right not to know one’s genetic condition does not increase the value of individual autonomy, but rather degrades it and, second, that a desired ignorance of the results of genetic testing is guilty. The article is a response to the arguments of Rosamond Rhodes and Rodolfo Vázquez. The thesis proposes an argumentation that follows a double outline. The first includes an argument against those who exercise their right not to know, stating that one cannot make autonomous decisions without knowing all the relevant information. The second takes into account the decision of not knowing related to other individuals, concluding that a person who chooses genetic ignorance is irresponsible and even guilty. The purpose of the paper is to first suggest some critical considerations regarding the dyad need of information-autonomy, while secondly proposing an analysis of the theoretical framework that argues that the choice of not knowing the diagnostic results is an incriminating ignorance.

scholarly journals Biochemical abnormalities in COVID-19: a comparison of white versus ethnic minority populations in the UK

2021 ◽  
pp. jclinpath-2021-207446
Author(s):  
David R Taylor ◽  
Devon Buchanan ◽  
Wiaam Al-Hasani ◽  
Jessica Kearney ◽  
Tina Mazaheri ◽  
...  
Keyword(s):  
Intensive Care ◽  
Ethnic Minority ◽  
Ethnic Minorities ◽  
Troponin T ◽  
Minority Group ◽  
Patient Data ◽  
Minority Population ◽  
Gamma Glutamyl Transferase ◽  
Ethnic Minority Population ◽  
Glutamyl Transferase

AimsPublic Health England has identified that in COVID-19, death rates among ethnic minorities far exceeds that of the white population. While the increase in ethnic minorities is likely to be multifactorial, to date, no studies have looked to see whether values for routine clinical biochemistry parameters differ between ethnic minority and white individuals.MethodsBaseline biochemical data for 22 common tests from 311 SARS-CoV-2 positive patients presenting to hospital in April 2020 in whom ethnicity data were available was retrospectively collected and evaluated. Data comparisons between ethnic minority and white groups were made for all patient data and for the subset of patients subsequently admitted to intensive care.ResultsWhen all patient data were considered, the ethnic minority population had statistically significant higher concentrations of C reactive protein (CRP), aspartate aminotransferase and gamma-glutamyl transferase, while troponin T was higher in the white group. A greater proportion of ethnic minority patients were subsequently admitted to intensive care, but when the presenting biochemistry of this subset of patients was compared, no significant differences were observed between ethnic minority and white groups.ConclusionOur data show for the first time that routine biochemistry at hospital presentation in COVID-19 differs between ethnic minority and white groups. Among the markers identified, CRP was significantly higher in the ethnic minority group pointing towards an increased tendency for severe inflammation in this group.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

scholarly journals Effectiveness of the Interventions Utilized in Genetic Counseling

2014 ◽  
Vol 2014 ◽  
pp. 1-19 ◽  
Author(s):  
Jeeyae Choi ◽  
Hyeoneui Kim
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Information Technologies ◽  
Decision Aids ◽  
Healthcare Providers ◽  
Experimental Studies ◽  
Well Being ◽  
Diagnostic Tools ◽  
Effective Decision ◽  
Single Intervention

Background. Advances in genetic science and biotechnology accumulated huge knowledge of genes and various genetic tests and diagnostic tools for healthcare providers including nurses. Genetic counseling became important to assist patients making decisions about obtaining genetic testing or preventive measures. Method. This review was conducted to describe the counseling topics, various interventions adopted in genetic counseling, and their effectiveness. Experimental studies (N=39) published between 1999 and 2012 were synthesized. Results. The most frequently covered topic was benefits and limitations of genetic testing on breast cancer ovarian and colorectal cancers. Most of researchers focused on evaluating cognitive aspect and psychological well-being. Conclusion. No single intervention was consistently reported to be effective. Decision aids enhanced with information technologies have potential to improve the outcomes of genetic counseling by providing tailored information and facilitating active engagement of patients in information uptake. Clinical Implication. When nurses are familiar with topics and interventions of genetic counseling, they are well positioned to provide genetic/genomic information to the patient and families.

Uptake of genetic counseling and testing in a clinic based population of women with breast cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10524-10524
Author(s):  
Alexandra Wehbe ◽  
Mark A. Manning ◽  
Hadeel Assad ◽  
Kristen Purrington ◽  
Michael S. Simon
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
White Women ◽  
Private Insurance ◽  
Stage Iv ◽  
Early Stage Disease ◽  
Cancer Susceptibility Genes ◽  
Counseling And Testing ◽  
Stage Iv Disease

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.

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