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New Strategies For Public Health Genomics Beyond Newborn Screening

Categories: evidence-based medicine, family history, genomics, public health

Karen Greendale, Office of Public Health Genomics, Centers For Disease Control and Prevention

A Working Meeting and an Action Plan
to Save Lives Now

Nearly 2 million Americans are affected by one of three genetic conditions with a strong risk of early morbidity and mortality: BRCA 1/2 and hereditary breast and ovarian cancer; Lynch syndrome and colorectal , endometrial and ovarian cancer; and familial hypercholesterolemia and early cardiovascular events.  At present these conditions are poorly identified by the healthcare system but evidence based recommendations are available to prevent disease and improve health.    


Opening speaker, Dr. Ursula Bauer Director, NCCDPHP discusses a point later in the day with Dr. Khoury, OPHG Director

Opening speaker, Dr. Ursula Bauer Director, NCCDPHP discusses a point later in the day with Dr. Khoury, OPHG Director

On September 7, 2012, eighty experts and stakeholders representing federal, state and local public health agencies, clinicians, key advocates and community leaders came together at CDC’s Roybal headquarters in Atlanta to develop a plan to use evidence based “Tier I” interventions to reduce morbidity and mortality from these three conditions.  The event was organized by the CDC Office of Public Health Genomics (OPHG) with help from the University of Michigan Center for Public Health and Community Genomics, Genetic Alliance, and a multi-disciplinary planning committee. The full meeting report is published on the Genomics Forum website and is available for   download at  http://genomicsforum.org/editoruploads/ActionstoSaveLivesNowReport.pdf   

The day’s work centered around: reviewing the evidence of effectiveness in implementing available interventions; identifying opportunities, strategies, and models; and identifying the means to achieve success for these new and cost effective public health programs.  


pyramidUsing the “Health Impact Pyramid” as a guide, participants discussed various steps which could be taken, given challenges and opportunities for improvement. Particular emphasis shpuld be given to actions lower on the pyramid, such as policy changes (for example: coverage/care for Tier 1 applications). Interventions at this level have more population impact because they change the context to make people’s default decisions healthy.

Said Deb Duquette MS, CGC of the Michigan Department of Community Health, one of several state representatives present at the event,”Clearly work to inform policy change is critical for Tier 1 programs and has been a major part of our success in Michigan. This was particularly true where healthcare coverage for the USPSTF BRCA 1/2 recommendation was expanded to seven million people in our state.  The public health impact for the dollar is large in the policy area and this model can be applied in many other states.”

At the end of the day, a public health action plan was assembled to implement these strategies through state public health departments in partnership with health care payers and providers: 
  1. Incorporate and build on the previous success of state public health genomics programs, in particular by employing  new policy implementation approaches;
  2.  Develop and use standardized protocols as a guide for Tier 1 program activities;
  3.  Develop and distribute standardized communication materials for Tier 1 applications including educational materials for patients, providers, and public health practitioners;
  4.  Develop and use standardized surveillance indicators, such as those for HP2020  to measure success and integrate synergistically with provider/payer systems;
  5.  Collaborate and share lessons learned with other states and partners such as what is being done with the  Lynch Syndrome Screening Network (LSSN);
  6. Conduct cascade screening (identifying relatives at risk from case patients) pilot projects and consider the scalability and cost effectiveness of broader  programs that use it ;
  7.  Build strong partnerships toward mutual goals which include healthcare payers, healthcare providers, advocacy groups, and other key stakeholders;
  8.  Stay abreast of changes in the field as new applications with sufficient evidence for implementation become available.

To follow up on the event’s success, a “Tier 1 Toolkit” is now being developed which will provide the tools and educational resource identified during the event as keys to progress. This resource will be available on CDC’s website before the end of this year, and will help states to overcome the unique challenges in this arena, establish key healthcare and payer partnerships, and take action to save lives now using Tier 1 public health genomics applications.


The event’s Patient and Community Perspectives Panel included key leaders (from left to right): Katherine Wilemon, Founder and President, the FH (Familial Hypercholesterolemia) Foundation; Sue Friedman, DVM - Executive Director, FORCE (Facing Our Risk of Cancer Empowered);  Cristi Radford, MS, CGC - Lynch Syndrome International / Moffitt Cancer Center; Rochelle Shoretz, JD - Executive Director, Sharsheret: Your Jewish Community Facing Breast Cancer;  Sabrina Ford, PhD - Department of Obstetrics, Gynecology & Reproductive Biology, Michigan State University; and Winona Hollins Hauge, MSW, LCSW - Fred Hutchinson Cancer Center, Governor's Interagency Council for Health Equity (Washington State), National Community Committee Genomics SPIG/UW HPRC.
The event’s Patient and Community Perspectives Panel included key leaders (from left to right): Katherine Wilemon, Founder and President, the FH (Familial Hypercholesterolemia) Foundation; Sue Friedman, DVM – Executive Director, FORCE (Facing Our Risk of Cancer Empowered); Cristi Radford, MS, CGC – Lynch Syndrome International / Moffitt Cancer Center; Rochelle Shoretz, JD – Executive Director, Sharsheret: Your Jewish Community Facing Breast Cancer; Sabrina Ford, PhD – Department of Obstetrics, Gynecology & Reproductive Biology, Michigan State University; and Winona Hollins Hauge, MSW, LCSW – Fred Hutchinson Cancer Center, Governor’s Interagency Council for Health Equity (Washington State), National Community Committee Genomics SPIG/UW HPRC.

New Strategies in Public Health Genomics:  Actions to Save Lives Now
Atlanta, Georgia
September 7, 2012

Planning Committee: Sylvia Au – Hawaii State Department of HealthScott Bowen – Centers for Disease Control & PreventionSummer Cox – Oregon Health Authority

Rebecca Giles – Utah Department of Health Asthma Program

Karen Greendale – Centers for Disease Control & Prevention

Katherine Johansen Taber – The American Medical Association

Jenna McLosky – Michigan Department of Community Health

James O’Leary – Genetic Alliance

Patricia Page – Emory University

Joan Scott – National Coalition for Health Professional Education in Genetics

Amy Zlot – Oregon Health Authority

Speakers: Lynch Syndrome speaker 1:
Heather Hampel – The Ohio State UniversityLynch Syndrome speaker 2:
Debra Duquette – Michigan Department of Community HealthHereditary Breast and Ovarian Cancer speaker 1:
Mark Robson – Memorial Sloan-Kettering Cancer Center

Hereditary Breast and Ovarian Cancer speaker 2:
Amber Roche – Public Health Seattle & King County

Familial Hypercholesterolemia speaker 1:
James Underberg – NYU School of Medicine and NYU Center for Prevention of Cardiovascular Disease

Familial Hypercholesterolemia speaker 2:
Joan Ware – National Association of Chronic Disease Directors

Public Comments

Comments listed below are posted by individuals not associated with CDC, unless otherwise stated. These comments do not represent the official views of CDC, and CDC does not guarantee that any information posted by individuals on this blog is correct, and disclaims any liability for any loss or damage resulting from reliance on any such information. Read more about our comment policy ».

  1. October 18, 2012 at 6:35 pm ET  -   Cascade Screening: An Idea Whose Time Has Finally Come

    [...] The FH Foundation participated in the “New Strategies in Public Health Genomics” conference at the Centers for Disease Control on September 7, 2012. There, action plans to use evidence-based genomic programs to address Familial Hypercholesterolemia, along with hereditary breast and ovarian cancer and lynch syndrome, were discussed. You can read more about the meeting and its findings by clicking here. [...]

    Link to this comment

  2. November 1, 2012 at 1:22 am ET  -   Learn more about Cascade Screening and FH | FH Foundation

    [...] In September, the FH Foundation participated in the “New Strategies in Public Health Genomics” conference at the Centers for Disease Control (CDC).  Experts and key stakeholders, including advocates, community leaders and clinicians, came together to discuss evidence-based genomic programs addressing three genetic disorders: Familial Hypercholesterolemia, hereditary breast and ovarian cancers and Lynch Syndrome. Read more about the meeting on the CDC’s blog. [...]

    Link to this comment

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