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1.
Fam Cancer ; 23(2): 141-145, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38748383

RESUMO

The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a powerful application of precision medicine and involves the process of familial diffusion or the "cascade" of genomic risk information. When an individual (proband) is found to carry a cancer-associated germline pathogenic mutation, the information should be cascaded or shared with at-risk relatives. First degree relatives have a 50% likelihood of carrying the same cancer-associated mutation. This process of cascade testing offers at-risk relatives the opportunity for genetic testing and, for those who also carry the cancer-associated mutation, genetically targeted primary disease prevention through intensive cancer surveillance, chemoprevention and risk-reducing surgery, reducing morbidity and preventing mortality. Cascade testing has been designated by the Centers for Disease Control and Prevention as a Tier 1 genomic application for hereditary breast and ovarian cancer. In this manuscript we describe a cascade genetic testing and in particular focus on its potential to provide necessary care to medically underserved and vulnerable populations.


Assuntos
Predisposição Genética para Doença , Testes Genéticos , Humanos , Feminino , Medicina de Precisão/métodos , Mutação em Linhagem Germinativa , Aconselhamento Genético , Neoplasias/genética , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Neoplasias da Mama/genética
2.
Int J Gynecol Cancer ; 31(5): 721-726, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33495207

RESUMO

OBJECTIVE: Enhanced recovery protocols are now established as the standard of care leading to improved perioperative outcomes and associated cost-benefits. The objective of this study was to evaluate the impact of an enhanced recovery program on complication rates in high-risk gynecologic oncology patients undergoing surgery. METHODS: This retrospective cohort study included gynecologic oncology patients with pathology-proven malignancy undergoing non-emergent laparotomy from October 2016 to December 2018 managed on an enhanced recovery protocol, and a control group from October 2015 through September 2016 prior to enhanced recovery protocol implementation. The primary outcome was complication rates in a high-risk population pre- and post-enhanced recovery protocol. High-risk patients were defined as those with obesity (body mass index >30 kg/m2) and/or age ≥65 years. Analysis was performed using Statistical Package for Social Sciences (SPSS) v.24. RESULTS: A total of 363 patients met the inclusion criteria: 104 in the control group and 259 in the enhanced recovery protocol group. Patient demographics, including age, body mass index, diagnosis, and performance status, were similar. Overall complication rates were less in the enhanced recovery protocol group (29% vs 53.8%; p<0.0001). The enhanced recovery protocol group had a shorter length-of-stay compared with control (3.3 vs 4.2 days; p<0.0001). The 30-day readmission rates were similar between the groups (9.6% vs 13.5%; p=0.19). In the enhanced recovery protocol group compared with control, complication rates were less in obese patients (29.4% vs 57.8%; p<0.0001), morbidly obese patients (20.9% vs 76.2%; p<0.0001), and age ≥65 (36.1% vs 57.1%; p<0.0001). The most common complications in the enhanced recovery protocol group were ileus (9.7%), pulmonary complications (2.7%), and blood transfusions (10.8%). CONCLUSIONS: Implementation of an enhanced recovery protocol decreases complication rates and length-of-stay in morbidly obese and geriatric patients with gynecologic malignancy without an increase in readmission rates.


Assuntos
Recuperação Pós-Cirúrgica Melhorada , Neoplasias dos Genitais Femininos/cirurgia , Complicações Pós-Operatórias/epidemiologia , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Pessoa de Meia-Idade , Obesidade Mórbida/complicações , Readmissão do Paciente/estatística & dados numéricos , Estudos Retrospectivos
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