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Genomic Testing Across the Lifespan

Human molecular (epi)genomic information is no longer static, rather it is a dynamic force. The paradigm of single gene testing, with focused phenotype-genotype interpretation, taking place at specific points in the lifespan, (e.g. carrier testing for individuals 18 and over), as well as the assumption that such tests need only be performed once during that lifespan are now being challenged by new, large scale gene sequencing and gene expression technologies. The flood of data produced by these methods significantly increases the potential need for variant reinterpretation and reveal “off target,” or incidental results, thus calling into question older practices regarding the timing and disclosure of test results as well as the tissue source.  All phases of the lifespan, from pre-natal to end of life care will be implicated by the use of these new technologies, and clinical, ethical, legal and social questions will arise. The workshop will examine the issues raised by considering (epi)genomics through a lifetime lens.

1:00 – 1:15      Introduction (Christina Palmer, ISG Vice Chair)
1:15 – 1:50      Hannah Landecker
1:50 – 2:25      Wayne Grody
2:25 – 2:45      Break
2:45 – 3:20      Holly Tabor
3:20 – 3:55      Adrienne Asch
3:55 – 4:30      Stefan Timmermans
4:30 – 5:00      Panel Q & A
5:00 – 6:00      Reception


How The Genome Got a Life Span
In the space of little more than a decade, ideas of the human genome have shifted significantly, with the emergence of the idea that the genome an individual dies with is not the genome he or she was born with – the genomes of the body’s constituent cells change with development, age, disease, environmental inputs, and time.  This talk examines the emergence of the genome with a life span, one that experiences genome instability, epimutation, and a host of other temporal changes.

Clinical Applications of Genomic DNA Sequencing: A Whole New World.
The advent of massively parallel or “next generation” DNA sequencing has finally brought within reach the long-anticipated “Thousand Dollar Genome”, or the ability to sequence an individual’s entire genome at reasonable cost.  Many are predicting that this achievement will supplant the single-gene genetic testing that largely comprises molecular medicine today.  However, application of this technology at the clinical level represents a true paradigm shift that will require new standards for appropriate test ordering, informed consent, actionable interpretation, access to patented sequences of the genome, and revelation of “off-target” results.  This presentation will explore these factors based on precedents from the single-gene experience in molecular diagnostics.

Holly TABOR (U Washington)
The Genome as a Resource: Self-Directed Results Management in Exome/Whole Genome Sequencing
This talk will address new ethical and practical challenges that arise in results management for exome and whole genome sequencing, and propose a new paradigm for self-directed management of results, especially management of secondary results. Dr. Tabor will describe an innovative web-based tool, My46, for the management of exome and whole genome sequencing results.

Adrienne ASCH (Yeshiva University)
Prenatal Testing and Information: What is “too Much” and what is the “Right” Kind?
Ever since the advent of prenatal testing technology, geneticists, genetic counselors, and bioethicists have struggled to determine how to deliver information to prospective parents. The development of techniques to screen embryos and early-stage fetuses, and the proliferation of characteristics that can now be detected diagnostically heightens these concerns. In this talk I explore the ways in which the technological changes change, and do not change, the ethical questions for professionals and prospective parents. I will argue that regardless of the techniques used or the timing of the information, the basic ethical questions concern what prospective parents should ask themselves about their hopes and expectations of the parenting experience and of the parent-child relationship.

Saving Babies or Worrying Parents? Anticipating Genome Sequencing at Birth
The NIH has recently issued a request for applications to study the feasibility of turning the universal newborn screening program into a genetic screening project. The plan is to sequence every baby’s exome or genome soon after birth. The idea behind this endeavor is to have full genetic knowledge available for disease prevention and personalized medicine. Inevitably, however, such an expansion of genetic technologies at the beginning of life will also have unintended consequences. Drawing from a study examining the most recent expansion of newborn screening programs in 2006 from a handful to more than 50 conditions, I review some of these anticipated unintended consequences.

Friday, February 8, 2013
1:00 PM - 5:00 PM
Los Angeles, UCLA Semel Institute, C8-183



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