Implementing Evidence-based Genomics Recommendations at the Intersection of Public Health and Healthcare

We take the opportunity of March 22, 2013, designated as Lynch Syndrome Awareness Day by 13 U.S. state governors and counting, to highlight state public health genomics programs that are taking innovative approaches to implement evidence-based genomic testing recommendations for hereditary cancer syndromes, including Lynch syndrome. 

Using existing data from central cancer registries, public health programs are bringing attention to potential cases of hereditary cancer syndromes at reporting hospitals and clinics within their states. State health departments provide hospital-specific data reports coupled with provider educational resources, including evidence-based recommendations related to genetic counseling and testing for at-risk individuals. State programs have used cancer registry data to identify thousands of cancer cases that might benefit from genetic evaluation for hereditary breast, ovarian, colorectal and other cancers based on current evidence-based recommendations.

Such was the novel approach developed and implemented by the Michigan Department of Community Health (Michigan DCH) and subsequently carried out by the Genomics Office of the Connecticut Department of Public Health (Connecticut DPH-GO).  The goal was to promote awareness and appropriate use of the 2005 U.S. Preventive Services Task Force recommendation for BRCA genetic counseling and testing related to hereditary breast and ovarian cancer syndrome (HBOC) and the 2009 Evaluation of Genomic Applications in Practice and Prevention Working Group recommendation pertaining to genetic testing for Lynch syndrome.   This public health educational initiative aligned with two new genomics-related Healthy People 2020 objectives.

Hospital-specific data reports were distributed as follows:

• 434 reports to 151 facilities in Michigan in 2010-11
• 437 reports to 31 facilities in Connecticut in 2012

These reports highlighted the number of early-onset female breast, ovarian, male breast, and multiple primary cancer cases diagnosed over a two-year period — cancers that may be associated with an increased risk of HBOC.  The reports also included the number of colorectal, endometrial, and multiple primary cancer cases diagnosed over a two-year period potentially associated with an increased risk of Lynch syndrome. Michigan DCH has reported back over 15,000 cancer cases based on 2006-2007 registry data, and Connecticut DPH-GO has reported back over 5000 cancer cases based on 2008-2009 data.

Feedback from facilities has been positive and several Michigan facilities have chosen to contact their at-risk patients to collect additional family history information and to ensure that genetic services were received when appropriate. Michigan DCH provided six grand rounds presentations in response to the mailings, whereas Connecticut DPH-GO gave an astounding 23 grand rounds trainings across the state.

Connecticut also distributed cancer genomics educational materials and evidence-based guidelines to nearly 1,000 Connecticut physicians specializing in obstetrics/gynecology or gastroenterology, who are most likely to screen for cancer and identify individuals with family histories of cancer. The packet included a unique tool developed by DPH for healthcare providers – a slide chart containing current, evidence-based referral criteria for HBOC and Lynch syndromes.

This reporting process is thought to be a multi-state success that could be replicated by other state health departments with relatively minimal funding. Raising awareness among healthcare providers will aid in identifying patients with a high-risk personal or family history of cancer and ensure that patients receive genetic services when appropriate. Earlier or more intense cancer screening and surveillance, chemoprevention treatments, or the option of prophylactic surgery may lead to improved health outcomes for patients at increased hereditary risk.