Leaders in Pharmaceutical Business Intelligence (LPBI) Group

     Moderator:

David Sweetser, M.D., Ph.D.
Unit Chief, Division of Medical Genetics; Attending Physician in Pediatric Hematology/Oncology,
Massachusetts General Hospital for Children

Genomics revolutionized medicine and genetic variation in a larger scale

Cases one on Causing Autism – mutations in a gene of synapse formation, clinical trials

Treatment: IGF1

Genetics: embryo – implant only the healthy embryo – newborn comprehensive genetics testing in the medical record integrated – Standard language of GENE-DRUG interaction not only drug-drug interaction

Potential Harms: May or may not happen disease – stigma issues

Explaining to parents the conditions is very difficult for MDs

Panelists:

3. Diana Bianchi, M.D.
Executive Director, Mother Infant Research Institute;
Vice Chair for Research and Academic Affairs,
Department of Pediatrics; Attending Geneticists and Neonatologist;
Natalie V. Zucker Professor, Tufts University School of Medicine

Medical Geneticist – Pediatrics

• Prenatal screening and diagnosis – chromosomal abnormality – Down Syndrome, testing is more precise 70% fewer procedures to correct defects due to screening prenatally.
• Prenatal diagnostics — patient is not in front of us, ultrasound examination, options to terminate pregnancies, genetic counseling — changed due to Genomics
• Prenatal treatment to down syndrome before the birth – Transcriptomic approach, treat the fetus prebirth
• Standard of care – all pregnant women – must receive from MD the option for screening for down syndrome, it is a test positive or negative
• NOW – DNA allows to test for  fetal sex, chromosome in maternal circulation fetal and maternal genetics — Mother may have chromosomal variation
• high false positive – DNA for Down Syndrome, 97% effective Micro duplication only 5%
• genetics information protection act – sue prospective employer using Genome, life insurance issues
• most data available is on Down Syndrome, of all parents informed of a fetus with Down Syndrome – 40% continues the pregnancy
• accuracy in testing, offering choice and treatment are LEADING principles NOT elimination of a disease (i.e. down syndromes)
• in ten years — GENOME OF EVERY FETUS TO BE SEQUENCE

for reference see Prenatal Treatment of Down’s Syndrome: a Reality?

and ref list by Dr. Bianchi

2. Holmes Morton, M.D. @ClinicSpecChild
Medical Director, Clinic for Special Children

Small population in Lancaster, PA – risk for untreatable disease 52,000 screens 4.2 millions in US are screened Target mutation analysis, diagnosis very effectively. Harrisburg, PA – small scale natural history studies

Carrier testing offered in 70s. Discourages  from marriage, culture reaction is different. Working in the community, clinical practice using exon sequencing, combine population genetics and molecular biology.Translate Genomics to Clinical, small number of risk factors

History of genetics in population important to establish treatment

Upon birth, affected newborns get matching bone marrow transplant, thus, bypass stem cells – Gene therapy is another thing

1. Benjamin Solomon, Ph.D., M.D.
Chief, Division of Medical Genomics,
Inova Translational Medicine Institute