NIH Common Fund conference inspires new TRANSPERS publication

Dear Colleagues,

Spring is a time of growth and change, and so it seems fitting that the TRANSPERS Center is also experiencing exciting new advancement and expansion this season.

We have many new developments from the field to share, including news of new publications and projects that will advance the science of personalized medicine and the work of our Center. Our new funding from NHGRI in the field of Whole Genome Sequencing shows that TRANSPERS continues to grow and meet the ever-dynamic changes and need for new research in the field.

As always, we welcome your thoughts, comments, and ideas for collaboration.


Kathryn Phillips signature

Kathryn Phillips, PhD

TRANSPERS Center Director

In this issue

NIH Common Fund Conference on Economics of Personalized Medicine inspires new TRANSPERS publication

A new TRANSPERS publication is in press and will be featured in the Forum for Health Economics and Policy: Phillips, K.A., Sakowski, J.A., Liang, S.Y., and Ponce, N.A. Economic Perspectives on Personalized Health Care and Prevention, 2013.

This publication arose out of the NIH Health Economics Common Fund’s conference entitled “Economics of Personalized Health Care & Prevention” held in July 2012. The conference brought together health economists and researchers specializing in personalized health care and prevention. The purpose was to discuss and provide clarity on the current state of the field of personalized medicine, and to highlight current gaps in knowledge. Six presentations were given - including one by TRANSPERS Director Kathryn Phillips - followed by discussion and closing statements by invited participants.

Dr. Phillips’s presentation was the inspiration for this new publication in Forum for Health Economics and Policy. This publication provides an overview of economic evaluation of personalized medicine, focusing particularly on the use of cost-effectiveness analysis and other methods of valuation, drawing on insights from work conducted by the TRANSPERS Center. The paper also discusses six areas for future research:

  1. Developing and Applying Multiple Methods of Assessing Value
  2. Identifying Key Factors in Determining the Value of Personalized Medicine
  3. Using Real World Perspectives in Economic Analyses
  4. Considering Patient Heterogeneity and Diverse Populations in Economic Analyses
  5. Preparing for Upcoming Challenges of Assessing Value of Emerging Technologies
  6. Incorporating Behavioral Economics into Value Assessments

To request a copy of the article, contact us.

New guidelines on incidental findings and TRANSPERS research highlighted at the American College of Medical Genetics Annual Meeting

March 2013’s ACMG Annual Clinical Genetics Meeting in Phoenix was an exciting event in the world of exome and genome sequencing (WES/WGS).

Dr. Phillips presented at the ACMG closing plenary session. Her talk focused on the present and future of reimbursement for Genomic Medicine, with a special presentation entitled: “Clinical and Laboratory Genomics: What to expect for coverage, reimbursement, and policy decisions by payers.”

TRANSPERS collaborator and Principal Investigator of the MedSeq™ Project Dr. Robert Green was co-chair of the ACMG Working Group and lead author of the highly-anticipated report released at the meeting: “Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.”

Incidental findings, or secondary findings that are revealed through the testing process but are not the actual reason for the testing itself, are a prominent issue in WES/WGS. The ACMG recommendations put forward a minimum list of findings recommended to be returned by laboratories to clinicians on conditions, genes, and variants whenever clinical sequencing is performed. This is the first time recommendations for handling incidental findings in the clinical setting have been put forth related to WES/WGS.

In a recent press release from Brigham and Women’s Hospital, Dr. Green said:

As clinical sequencing becomes more widespread, laboratories are looking for guidance on how and what should be communicated to clinicians when results are analyzed. These recommendations will allow a small percentage of families to learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for.


Kathryn Phillips leads national study of benefit​/​risk in emergent whole genome sequencing

Kathryn Phillips, PhD

Improving technologies are rapidly cutting the cost of whole genome sequencing, a process that reveals the complete library of a patient’s genetic information. Indeed, the era of the $1,000 genome—a catchphrase for the test’s relative affordability—appears imminent. But will the wider application of this encyclopedic option in personalized medicine help patients and health care providers prevent and more effectively treat diseases, or will it open a Pandora’s Box of confusion, fears, and costly, unnecessary treatments? Read more: Kathryn Phillips leads national study of benefit​/​risk in emergent whole genome sequencing.

TRANSPERS welcomes new Executive Director Heidi Auman, PhD


Heidi Auman, PhD

Heidi joins UCSF from the Canary Foundation where she was the Scientific Program Manager. Canary Foundation is the world’s first non-profit organization dedicated solely to the funding, discovery and development of tests for early cancer detection. Heidi was previously a Postdoctoral Research Fellow at New York University School of Medicine’s Skirball Institute of Biomolecular Medicine in New York City, where her research focused on studying the genetics and cell biology of cardiovascular development and disease. During her doctoral studies, she was awarded a Christine Mirzayan Science and Technology Policy Fellowship at the National Academies in Washington, DC. There she worked on issues at the intersection of policymakers, scientists, and the public with the Committee on Science, Engineering, and Public Policy. She earned her PhD, MS, and MPhil in Molecular, Cellular and Developmental Biology at Yale University.

Our previous Executive Director, Julie Sakowski, has relocated with her family to Chapel Hill, North Carolina. Please help us wish Julie well and welcome Heidi to our team!

TRANSPERS research highlighted at Scripps Symposium

TRANSPERS research was highlighted at the Future of Genomic Medicine conference sponsored by the Scripps Translational Science Institute Symposium in March in San Diego. This annual conference brings together the leading experts in genomic medicine with human geneticists, scientists, physicians and health-care professionals of all disciplines. This year’s event included a dynamic presentation, “Toward Precision Medicine,” by UCSF Chancellor Susan Desmond-Hellmann, highlighting exciting new advances in research and medicine at UCSF.

TRANSPERS’ contribution to the field of personalized medicine and cancer was highlighted when two key Center publications—on Pharmacogenomics (Phillips et al. 2001) and Genomic Testing and Therapies for Breast Cancer (Haas et al, 2011)—were cited by speakers: