Lynn M. Schnapp, M.D.
Director of Pulmonary, Critical Care, Allergy & Sleep Medicine
- For Medical Professionals
- Fellowship & Education
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. 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. If the caller elects to participate in the study, the caller is randomized to the telephone group and recieves telephone counseling. 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
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.
-Haitham Al Ashry
-Mario Ponce Alvarez
The invitations for the Core Curriculum were decided by the ATS Clinical Core Curriculum Working Group and target junior to mid-career colleagues who are regarded as dynamic and engaging teachers. Congratulations Dr. Lal!
Dr. Rissmiller will be receiving this award on June 3rd at the Awards Day Lunch.