Seminar:

Clinical Whole Exome Sequencing and Pharmacogenomic Testing for Patients and Healthy Individuals -

U.S. & Hong Kong Clinical Perspective

Programme

• Date: 18 December 2018

• Venue: Power A Space, 4/F Tung Hip Commercial Building, 244-248 Des Voeux Road Central, Central, Hong Kong

  • 香港德輔道中244-248號, 東協商業大廈4樓 (Sheung Wan MTR Exit A1)

• Time: 6:30-8:30 pm (Reception at 6:00 pm)

Seminar One

Seminar Two

“All are Welcome”

CME:

• Hong Kong College of Paediatricians: pending

• Hong Kong College of Obstetricians & Gynaecologists: pending

• Hong Kong College of Pathologists: pending

Abstracts

Positions/Titles

Director

• Molecular Diagnostic Laboratories and Clinical Genomics Center

• Departments of Pathology and Laboratory Medicine

• Pediatrics, Human Genetics, and Institute for Society and Genetics

Abstract

The UCLA Clinical Genomics Center was established nearly 7 years ago as a collaboration among the Departments of Pathology and Laboratory Medicine, Human Genetics, and Pediatrics. We were the first in the United States to offer clinical-grade whole-exome sequencing.

Moving beyond traditional genetic testing of one or a few genes at a time, this groundbreaking service utilizes “next-generation” or “massively parallel” DNA sequencing to obtain full DNA sequence of all the protein-coding regions in the human genome, about 30 million nucleotides of genetic code comprising about 22,000 genes. The technology thus allows examination not only of the small subset of known genes associated with genetic disorders but also any and all other genes that might be involved or yet to be discovered. And since all 22,000 genes are interrogated in parallel, in a single test, it offers the capability to put an end to the “diagnostic odyssey” that so many patients with mysterious illnesses typically go through, taking many years, visits to countless specialists, and tens of thousands of dollars of laboratory testing and imaging – many times the cost of this single test.

Our UCLA group, comprised of world experts in DNA testing, clinical genetics and bioinformatics, has pioneered not only the technical applications, but also a unique approach to interpretation of the tremendous mass of data produced by a single patient’s genomic sequence. Our multidisciplinary team of clinical laboratorians, genetic counselors, bioinformaticians and physicians, often including the clinician who ordered the test (either in person or using telemedicine/videoconferencing technology), evaluates the clinical significance of the many DNA sequence “variants” revealed in each patient’s exome in order to reach a decision on which ones to include in the test report. We modeled this process, which we believe is unique in the country if not the world, after the long-familiar Tumor Board concept used in oncology.

This presentation will draw on lessons learned and best practices developed over six years of providing clinical exome sequencing, including the importance of accurate phenotyping, active communication with the referring physician, useful bioinformatics tools, interpretive value of testing parental DNA along with that of the child, and the proper reporting of unexpected or incidental findings and variants of uncertain clinical significance.

We will also discuss some of the emerging applications of this technology, such as noninvasive prenatal testing, expanded carrier screening, and current studies in progress examining the feasibility and acceptance of genomic sequencing in newborns.

Speaker Biography

• Dr. Grody is a professor in the Departments of Pathology & Laboratory Medicine, Pediatrics and Human Genetics, and the institute for Society and Genetics, at the UCLA School of Medicine.

• He is the director of the Molecular Diagnostic Laboratories and the Clinical Genomics Center within the UCLA Medical Center, one of the first such facilities in the country to offer DNA-based tests for diagnosis of a wide variety of genetic, infectious, and neoplastic diseases, as well as bone marrow engraftment, patient specimen identification and paternity testing by DNA fingerprinting, and clinical genomic DNA sequencing for undiagnosed disorders.

• Dr. Grody is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders (with a special interest in familial Mediterranean fever, among others), and director of the UCLA Intercampus Medical Genetics Training Program.

  Clinical Guideline Development

• He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a large number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS/CLSI, CDC, AMP VA, ACGME, and the NIH-DOE Human Genome Project (ELSI program).

Past and Current Appointments

• President of the American College of Medical Genetics (2013-2015).

• For five years as founding chair of the Advisory Committee on Genomic Medicine for the entire VA healthcare system.

• As a member of the NIH-DOE Task Force on Genetic Testing

• As the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening

Recent Awards

• Lifetime Achievement Award from the College of American Pathologists

• Ward Burdick Award for Distinguished Services from the American Society of Clinical Pathology

• Bowes Award Lectureship at Harvard Medical School

• Roscher Endowed Lectureship of the International College of Surgeons

• Leadership Award from the Association for Molecular Pathology

• Golden Apple Teaching Award from the UCLA Inter-Campus Medical Genetics Training Program

Education

• Dr. Grody did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA.

• He is double-board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, Biochemical Genetics).

Personal Interest

As a sidelight, Dr. Grody has been active in the film and television industries for many years, first as film critic for MD Magazine, a national leisure journal for physicians, then as technical advisor and sometime writer for a number of feature films, TV movies, and television series including Life Goes On, Chicago Hope, CSI, Medium, Law and Order, Heroes, and both Nutty Professor movies.

Positions/Titles

• Honorary Professor of the Faculty of Medicine, the Chinese University of Hong Kong

• Fellows, Hong Kong College of Paediatricians; Royal College of Physicians of Edinburgh; Hong Kong Academy of Medicine

• Editors, Clinical Genetics, HUGO Journal, and Journal of Community Genetics

Abstract

With the rapid adoption of next generation sequencing technologies in clinical care, especially whole exome sequencing and pharmacogenomic approaches, we recently introduced multiple whole exome sequencing tests for patients in Hong Kong. The clinical applications cover pediatric and adult genetic disorder diagnostics, preventive screening of individuals with minimal symptoms, as well as pharmacogenomics.

In this presentation, we will share our experience in the incorporation of this “genomic medicine” in our day-to-day clinical practices - We will present the motivations behind using clinical exome sequencing, and their outcome, including the impacts on treatment and care for pediatric and adult patients.

In addition, we will highlight specific cases where whole-exome diagnostic and screening approaches were used simultaneously. This dual-interpretation approach provides diagnosis coupled with reporting that maybe welcome by patients who would like to pro-actively understand their broader genetic risks, including their monogenic disorder risks, carrier status for recessive genetic disorders and drug metabolism profiles

Clinical cases to be presented were processed by Rainbow Genomics in collaborations with the Hong Kong Sanatorium and Hospital, UCLA Clinical Genomic Center, Baylor Genetics, OneOme, and other clinics in Asia.

Speaker Biography

• Between 1990-2015, Dr. Lam was the Director of Genetic Laboratory and Head of Clinical Genetic Service, Department of Health, Hong Kong. Over these 25 years, Dr. Lam was instrumental in training many clinical geneticists and teaching physicians who are currently serving various communities in Hong Kong as clinicians and faculty members at university medical schools.

• His main clinical activities and research are in the diagnosis and prevention of genetic diseases and ethical, legal and social issues in genetics. He has published more than 100 articles and edited two books.

Dr. Lam is currently the Director of Clinical Genetics Service and Honorary Consultant in Clinical Genetics at the Hong Kong Sanatorium and Hospital. He is also an Honorary Professor of the Faculty of Medicine in the Chinese University of Hong Kong.

In addition, Dr. Lam is also -

• Fellow of Hong Kong College of Paediatricians

• Fellow of Royal College of Physicians of Edinburgh

• Fellow of Hong Kong Academy of Medicine

Dr. Lam serves as Convenor of the Ethics Panel of the Hong Kong Family Planning Association and as a member on the Ethics Committee of the Council on Human Reproductive Technology in Hong Kong. He also serves as editor of several international journals including Clinical Genetics, HUGO Journal, and Journal of Community Genetics.

Dr. Lam was also the -

• Founding Chairman of the Hong Kong Society of Medical Genetics in 1987, and has served incessantly on the council of this society

• Consultant Clinical Geneticist, Director of Genetic Laboratory and Head of Clinical Genetic Service, Department of Health, Hong Kong (1990-2015).

• Council member of the International Society for Neonatal Screening, and a serving committee member of the Chinese Genetics Society.

• Past President of the Asia Pacific Society of Human Genetics (2011-12), and the International Federation of Human Genetic Societies (2012-14).

Education

Dr. Lam obtained his Bachelor of Medicine and Bachelor of Surgery degrees from the University of Hong Kong in 1976. Subsequently, he was trained in Paediatrics and Clinical Genetics at Queen Elizabeth Hospital, Hong Kong and Guy's Hospital, London. For his research on Biochemical Genetics and Cytogenetics, he was awarded Doctor of Medicine in 1988. He was also awarded Master of Health Administration from the University of New South Wales in 1997.