Division of pulmonary & Critical care


Alpha-1 Research Studies

Alpha-1 Association Genetic Counseling Program- Phone vs. Webcam

Currently the Alpha-1 Association Genetic Counseling Program provides contract-funded clinical services by telephone exclusively that are standard of care.  This study introduces genetic counseling provision by video conferencing.  When callers contact the Alpha-1 Association Genetic Counseling Program, the certified genetic counselor (Sara Wienke) assesses if their needs require a genetic counseling session.  If so, the genetic counselor discusses the research study with the caller and ask if they have Skype availability.  If the caller does have access to Skype and elects to participate in the study, the caller is randomized to either the video group or the telephone-only group.  If the caller does not have access to Skype but does want to participate in the study, he/she is enrolled and recieves telephone-only counseling.  This group serves as a third group of subjects to compare to the two groups being randomized.  This allows for comparisons of satisfaction between subjects with varying technological advances.  Informed consent is obtained verbally by the caller if he/she elects to participate. The genetic counseling session is provided in the same manner as it is provided to all callers outside of this study.  The call data is documented in the confidential database of the Alpha-1 Association Genetic Counseling Program.  After the call is completed, the genetic counselor emails the subject a web link to access the REDCap confidential survey online.  The survey asks questions about satisfaction with the genetic counseling services, as well as Study ID, age, race, and gender.  The Study ID is linked to the subject’s data in the Genetic Counseling Program database. 

Alpha-1 Coded Testing (ACT) Study

The ACT study began in 2001 and provides free and confidential at-home genetic testing for Alpha-1 Antitrypsin Deficiency.  After a participant completes the confidential REDCap questionnaire online, a bloodcard and lancets are mailed to the partipant’s home.  The participant pricks his/her finger and fills three circles in with drops of blood and mails the bloodcard to MUSC.  The cards are processed and mailed to the Alpha-1 Antitrypsin Genetic Laboratory at the University of Florida in Gainesville.  The genetic analysis takes approximately a month and then the participant is mailed a letter discussing the results.  Supporting patient literature is mailed to each participant in the results packet.  www.alphaoneregistry.org

Alpha-1 Foundation Research Registry

The Research Registry is a confidential database of individuals diagnosed with Alpha-1 Antitrypsin Deficiency and individuals identified as carriers.  The Registry was established in 1997 by the Alpha-1 Foundation and relocated to MUSC in 2000.  It was established to facilitate research initiatives and promote the development of improved treatments and ultimately a cure for Alpha-1.  Registry participants have the ongoing opportunity to participate directly in clinical trials.  www.alphaoneregistry.org

Lung Cancer Research

Dr. Gerard Silvestri is currently directing six investigator-initiated research studies and one clinical trial, with initiation pending for two clinical trials and one investigator-initiated project. Under Dr. Silvestri’s mentorship, MUSC Pulmonary Fellows contribute to the research efforts of all of these studies, with support provided by his NIH K-24 Mid-Career Investigator Award in Patient-Oriented Research.

Four of these projects are sub-studies of a Department of Defense (DOD) program grant. The study Development and testing of multivariate statistical prediction model of malignancy potential of small (< 1.5cm) pulmonary nodules seeks to develop and test a model which will estimate the probability that a CT-detected pulmonary nodule is lung cancer, based on sociodemographic, exposure, medical history, and imaging variables. An ARRA supplement to Dr. Silvestri’s K-24 award provides additional funding to enable our team to incorporate data from the National Lung Cancer Screening Trial and thus develop a superior prediction model that we expect to be of great value to patients, clinicians, and researchers. A second DOD study is investigating the molecular markers associated with lung cancer, while a third involves collaboration with investigators at Clemson University and the University of North Carolina at Chapel Hill.  This team is developing a clinically-based discrete event simulation model to provide predictive estimates of health and economic outcomes associated with different smoking cessation interventions, thus improving clinical and patient decision-making and subsequent health and economic outcomes.  The fourth DOD study, Respiratory-gated PET/CT for evaluation of the small (4-10 mm) indeterminate pulmonary nodule, is investigating the utility of respiratory gating to “freeze” nodule motion on CT scans. In current clinical practice, nodules less than 1 cm are not good candidates for PET, thus limiting the utilility of PET as a diagnostic tool. This study will show that if motion could be diminished or stopped, small nodules will be a valid target for PET and clinicians will be able to accurately assess growth and malignancy potential.

Dr. Silvestri is the principal investigator for the multi-site clinical trial Airway Epithelium Gene Expression in the Diagnosis of Lung Cancer (Allegro Diagnostics, Inc.) which is developing technology for the detection of molecular predictors of lung cancer and lung cancer metastasis. Dr. Silvestri’s team is the leading enroller nationally for this multi-site trial, having accrued 113 participants during one year. He is also leading an investigator-initiated study which aims to identify a learning curve in terms of diagnostic accuracy among pulmonary fellows learning to perform Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-guided TBNA). Outcome data from this study will enable physicians to formulate objective guidelines for proficiency in pulmonary fellowship. Lastly, Dr. Silvestri received a Duke Endowment award to create a virtual thoracic tumor board (Remote Expert Assessment of Lung Cancer, or REAL Cancer). This web-based program (available at  http://hcc.musc.edu/research/real/index.htm) will enable physicians in rural, underserved regions of South Carolina to consult with the multidisciplinary team which meets weekly at Hollings Cancer Center to discuss complex thoracic cancer cases.  This real-time consultation will eliminate the current delays in care created by scheduling and travel constraints, and thus decrease the wait time from detection to care for rural patients in South Carolina who are facing lung cancer.


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