Primary care providers (PCPs) are often the first opportunity for individuals at risk for a genetic condition to be identified and they must care for patients with known genetic conditions. However, PCPs lag behind other providers in incorporating genetics into their practice. T…
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Most cancers are sporadic, but 5-10% of all cancer is hereditary, or caused by a heritable genetic mutation. A patient’s medical history, family history, genetic test results, intact organs (e.g., ovaries) at an increased risk for developing cancer, and the availability and acce…
Approximately 5–10% of cancers are thought to be hereditary, caused by pathogenic variants in genes associated with inherited cancer syndromes. Previvors, individuals who have a higher predisposition to cancer due to genetic or other risk factors, have specific healthcare and ps…
Expanded carrier screening (ECS) is used to determine risk for couples to have a child with an autosomal recessive (AR) or X-linked recessive (XLR) condition prior to or during pregnancy. ECS has increased in popularity over the past several years, and multiple studies have eval…
This study analyzed if differences in cancer reporting exist between different ethnic groups when collecting family pedigrees in a prenatal genetic counseling setting. Data was collected from 446 prenatal charts at University of California, Irvine from January 1, 2015 – August 3…
The negative effects of missed clinic appointments are well-studied, and certain predictive factors, such as longer lead times and lack of private insurance, have been associated with no-show behavior across a breadth of clinical specialties. However, little is known about the r…
This thesis presents the case report of a phenotypically male dizygotic twin with congenital dysmorphology and developmental delay. His clinical features involve the following systems: head and neck, skeletal, limbs, skin and nails, and, possibly, central nervous system. In comp…
Our aim was to assess patient opinions on prenatal genetic testing to determine which health risks, physical traits, and genetic conditions patients are interested in learning about their unborn child. We analyzed factors such as religion, education, and familiarity with disabil…
In February 2019, the American Society of Breast Surgeons (ASBrS) released a guideline recommending genetic testing be made available to all women with a breast cancer diagnosis. This guideline was based on findings in several papers outlining the number of individuals harboring…
Genetic counselors are providing care for an increasingly diverse patient population with a workforce demographic that does not necessarily reflect the shifting global community. Although the genetic counseling profession is becoming more diverse over time, methods of diversific…
The increasing understanding of genetics, advancement of genetic/genomic technologies, and availability of genetic/genomic testing have increased the demand for genetic counselors and resulted in a significant growth and expansion of our profession. While coursework on genetics/…
Background Lebanon is one of the developing countries of the Middle East in which genetic services are improving while trained genetic counselors remain nonexistent. The purpose of this study was to conduct an assessment of healthcare professionals working in Lebanon regarding a…