Ovarian Club X and CoGEN in Asia

SpeakerS

Yuval YARON (Israel)

Education and Training
1981-1988 Sackler Faculty of Medicine, Tel Aviv University, Israel - Medical School
1989-1995 Sourasky Medical Center, Tel Aviv, Israel – Residency in Ob/Gyn
1989-1992 Tel Aviv University, Postgraduate Courses in Ob/Gyn
1995-1997 Wayne State University, Detroit, MI, Fellowship in Medical Genetics

Appointments
2000-2005 Tel Aviv University, Department of Ob/Gyn - Senior Lecturer
2001-2006 Secretary, Israeli Society of Medical Geneticists
2005-date Tel Aviv University, Department of Ob/Gyn - Associate Professor

Diplomas
1990 Medical Diploma, Magna Cum Laude, Tel Aviv University.
1992 Certificate - Educational Commission for Foreign Medical Graduates, USA
1995 Specialist Diploma in Obstetrics & Gynecology, Israel
1995 Clinical Academic License - Michigan Board of Commerce, MI, USA
1997 Michigan Medical License - Michigan Board of Commerce, MI, USA
1997 Specialist Diploma in Clinical Genetics, Israel
2000 Certificate - American Board of Medical Genetics
2003 GCP Certificate Association of Clinical Research Professionals

Membership in Professional Societies
1988 Israel Medical Association.
1991 Israel Society of Obstetrics and Gynecology
1992 Israel Fertility Society.
1997 Israeli Society of Medical Genetics
2008 International Society for Prenatal Diagnosis

Publications:
Over 150 peer-reviewed papers, 20 chapters in books

Abstract

Expanded Carrier Screening – Every Couple Should Know Their Risks

The purpose of carrier screening is to provide prospective parents with reproductive choices in order to prevent the birth of affected offspring. Most conditions included in such screening programs are inherited in an autosomal recessive mode. If both parents carry a mutation in the same disease-associated gene, they have a 25% risk of affected offspring.

In the 1970s community-wide screening for Tay–Sachs disease was established among Ashkenazi Jews in North America and Israel. In the first 30 years, more than 1.5 million individuals were screened and more than 1,400 couples have been identified to be at-risk. This program has resulted in a virtual eradication of the disease in the screened population. Screening for thalassemia has also become common practice with beta thalassemia screened in the Middle East and Mediterranean and alpha thalassemia in South-East Asia.

With the discovery of the gene for cystic fibrosis, molecular-based screening has emerged in the 1990s. Gradually, more and more disease-associated genes have been discovered allowing expansion of multi-gene screening panels. Very few conditions are prevalent in ethnically diverse populations. Such examples include spinal muscular atrophy (SMA) and fragile X mental retardation. Most genetic conditions have a predilection for particular ethnic group. For instance, the Ashkenazi Jewish Genetic Panel includes about 20 conditions (such as Canavan disease, Gaucher familial dysautonomia and others). Such a panel however, is ineffective outside this ethnic group. The increase in the number of genetic conditions amenable to screening, the complexity of designing ethnic-specific screening panels and the dramatic technological innovations have highlighted the fact that current screening strategies are inadequate and may, in fact, become obsolete. This is further complicated by the fact that the rapid population fluxes, result in increasing ethnic admixtures to the point where individuals may become unaware of their precise ethnic background. These considerations have resulted in the paradigm shift that is expanded carrier screening. In this approach, hundreds of genetic conditions are screened simultaneously using a uniform platform. The test is offered to all, regardless of stated ancestry. Next generation sequencing (NGS) technologies allow to test for all possible gene mutations rather than for specific ethnic mutations. Despite the rarity of the each individual disorder included in such panels, the overall risk of having an affected offspring is may be much higher than that of having an offspring with a neural tube defect (NTD) or a chromosomal aberration.