Carrier screening of recessive disease: Universal screening


Speaker:

Gabriel Lazarin, USA

 

 

Speaker BIO:

lazarin gabriel EDUCATION AND CERTIFICATION
AMERICAN BOARD OF GENETIC COUNSELING
• Diplomate since 2007.
THE UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT HOUSTON – Houston, TX.
• M.Sc. Genetic Counseling.
• Thesis: Hispanics’ attitudes, knowledge and beliefs regarding familial colorectal cancer (CRC) and CRC screening.
STANFORD UNIVERSITY – Stanford, CA.
• B.A. Human Biology, concentration on Genetics and Genetic Testing.

PROFESSIONAL EXPERIENCE
DIRECTOR, GENETIC COUNSELORS 2009 - present
Counsyl - South San Francisco, CA.
• Counsyl is a health technology company that delivers counseling and testing for inherited disease.
PRENATAL GENETIC COUNSELOR 2006 – 2010
Fetal and Women’s Center of Arizona – Phoenix, AZ.

 

 

Overview

Recessive disease carrier screening for 100+ genes is now being performed in the US and Europe. In comparison to minimal screening for thalassemia or cystic fibrosis, this method identifies more couples at risk of having children with genetic disease. It also presents challenges in genetic counseling and clinical implementation. We discuss experiences and considerations for this new protocol for population-based screening.