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1.
JCO Oncol Pract ; 19(8): 637-644, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37220320

RESUMO

PURPOSE: Telegenetics services can expand access to guideline-recommended cancer genetic testing. However, access is often not distributed equitably to all races and ethnicities. We evaluated the impact of an on-site nurse-led cancer genetics service in a diverse Veterans Affairs Medical Center (VAMC) oncology clinic on likelihood of germline testing (GT) completion. METHODS: We conducted an observational retrospective cohort study of patients who were referred for cancer genetics services at the Philadelphia VAMC between October 1, 2020, and February 28, 2022. We evaluated the association between genetics service (on-site v telegenetics) and likelihood of GT completion in a subcohort of new consults, excluding patients with prior consults and those referred for known history of germline mutations. RESULTS: A total of 238 Veterans, including 108 (45%) seen on site, were identified for cancer genetics services during the study period, with the majority referred for a personal (65%) or family (26%) history of cancer. In the subcohort of new consults, 121 Veterans (54% self-identified race/ethnicity [SIRE]-Black), including 60 (50%) seen on site, were included in the analysis of germline genetic testing completion. In a univariate analysis, patients who were seen by the on-site genetics service had 3.2-fold higher likelihood of completing GT (relative risk, 3.22; 95% CI, 1.89 to 5.48) compared with the telegenetics service. In multivariable regression analysis, the on-site genetics service was associated with higher likelihood of GT completion, but this association was only statistically significant in SIRE-Black compared with SIRE-White Veterans (adjusted RR, 4.78; 95% CI, 1.53 to 14.96; P < .001; P-interaction of race × genetics service = .016). CONCLUSION: An on-site nurse-led cancer genetics service embedded in a VAMC Oncology practice was associated with higher likelihood of germline genetic testing completion than a telegenetics service among self-identified Black Veterans.


Assuntos
Neoplasias , Veteranos , Humanos , Estudos Retrospectivos , Papel do Profissional de Enfermagem , Testes Genéticos , Neoplasias/genética
2.
J Genet Couns ; 32(1): 4-17, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36054686

RESUMO

There are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or THGC). A recent systematic evidence review (SER) compared outcomes of THGC with in-person genetic counseling and found that for the majority of studied outcomes, THGC was a non-inferior and comparable service delivery model. The SER results were used to develop this guideline. The current and anticipated future use of THGC, including the influence of the COVID-19 pandemic, provides the context for this guideline. Recommendation: The Telehealth Practice Guideline author workgroup conditionally recommends telehealth genetic counseling, either via telephone or video, as a delivery method for genetic counseling. Depending on factors unique to individual healthcare systems and provider and patient populations, THGC may be the only service delivery model available or may be utilized in addition to other service delivery models including in-person genetic counseling. The evidence shows large desirable effects, minor undesirable effects, and increased equity for patients when THGC is available. THGC may reduce or remove existing barriers to patient access to genetic counseling, such as medical conditions and/or disabilities that may affect a patient's ability to travel, inflexible work or school schedules, and lack of reliable transportation, finances, or dependent care. THGC is likely acceptable to key groups impacted by its use and is feasible to implement. Certain patient populations may require additional resources or encounter more barriers in using telemedicine services in general. For these populations, THGC can still be a valuable option if solutions are available.


Assuntos
COVID-19 , Conselheiros , Telemedicina , Humanos , Aconselhamento Genético/métodos , Pandemias , Telemedicina/métodos
3.
Fed Pract ; 33(Suppl 1): 46S-51S, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30766204

RESUMO

Genomic testing may be a vital component in the medical management of patients with complex clinical phenotypes and cancer.

4.
Artigo em Inglês | MEDLINE | ID: mdl-25204983

RESUMO

This qualitative study explored the reproductive decision-making process in individuals at 50% risk for familial amyotrophic lateral sclerosis (FALS) from families with a known genetic mutation. We spoke with 10 individuals utilizing a semi-structured interview. Participants had a first-degree relative with FALS, made reproductive decisions in the past 30 years and did not know their genetic status during decision-making. We delineated themes emerging in individuals who chose to have children, those who chose not to have children, and themes describing the process in general. Results showed that those who chose to have children believed that regardless of disease, life is productive. They compared ALS relatively favorably to other diseases, always planned on having children, and hoped for a cure. Individuals who chose not to have children had extensive experience with ALS and caretaking, saw ALS as an inevitable tragedy, and avoided serious relationships. In consultation with partners, individuals considered other reproductive options. Conversations varied in length, and often strengthened relationships. Children experiencing death of a parent was a primary concern. In conclusion, the reproductive decision-making process is complex. Results can guide future research and provide direction for healthcare professionals when discussing the family planning process and prior to predictive genetic testing.


Assuntos
Esclerose Lateral Amiotrófica/complicações , Transtornos Cognitivos/etiologia , Tomada de Decisões/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Adulto Jovem
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