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Developing Priorities In The Field Of Genomics And Public Health

Text: 2012-2017 Priorities for Public Health Genomics Stakeholder Consultation|Priorities Conference Report|September 2011  In June 2011, the CDC Office of Public Health Genomics launched a community wide consultation process to develop priorities for the field of public health genomics in the next 5 years. This process was initiated as part of strategic visioning for integrating the emerging tools of genomics into practice and assuring the success of these new tools in improving population health. The process was conducted at a time of a widening gap between the rapid scientific advances in genomics and their impact on improving population health.   The University of Michigan Center for Public Health and Community Genomics and Genetic Alliance spearheaded an effort to seek, collate and synthesize advice and recommendations from numerous stakeholders and constituents. The effort culminated in a workshop conducted on September 14, 2011 in Bethesda, Maryland. The results of the consultation, discussions and deliberations are summarized in a report published by the University of Michigan. Highlights of the recommendations are summarized here but readers should consult the full report.  Some of the recommendations include:

To improve public health genomics education:

  • Integrate genomics into health professional programs of study (e.g., schools of public health, medicine, nursing, dentistry, pharmacy, etc.).
  • Train the existing health professional workforce
  • Build partnerships and collaborations in academia, public health practice and communities to promote genetic and genomic literacy.

To improve utility and efficiency of research:

  • Develop and implement research that leads to a strong evidence base for public health action
  • Direct research toward translation, shifting focus to health outcomes
  • Engage community in research agendas.

To assure that genetics services and technologies are safe, effective, and appropriately integrated into the healthcare setting:

  • Evaluate genetic tests for clinical validity and utility
  • Create a credible, publicly available database of genomics tools and findings on their validity and utility
  • Evaluate family history to demonstrate value of genetic tests, technologies, services, and tools.

To support safe, responsible and practical uses of public health genomics, develop policies to:

  • Ensure a competent public health workforce and a health-literate nation
  • Further public health genomics research agendas
  • Ensure proper regulation of genomic technologies
  • Ensure appropriate use of genomic technologies.

To ensure health applications would effectively improve public health outcomes over the next five years:

  • Utilize family health history to identify risk and modify behavior
  • Expand focus of genomics and related technologies to common chronic disease.

We are most grateful to the numerous individuals, organizations and communities that worked hard on this consultation effort. The report adds passion and substantive contributions to recently developed reports, notably by the Secretary’s Advisory Committee on Genetics, Health and Society on training and education of the workforce, the Association for State and Territorial Health Officials on the essential public health functions and services in genomics, and our recent paper: “beyond base pairs to bedside”.

As the field of genomics and related technologies continues to mature in the next decade, we see an important contribution of public health practice in all these domains. Among important actions for public health will be to:

  • Serve as the honest broker for emerging genomic applications to consumers, providers, and policymakers to inform what is ready and what is not
  • Implement evidence-based genomic applications and discourage use of unvalidated applications through policy, educational and clinical interventions
  • Evaluate impact of public health interventions to assess benefits and harms for subsets of the population based on genetic and genomic information.

Collectively, these actions will have a small but increasing impact for improving population health. Two cases in point are implementation of recent evidence-based recommendations around BRCA testing for breast and ovarian cancer and Lynch syndrome testing in colorectal cancer. They will also have an important impact in saving unnecessary healthcare costs and preventing harms while illuminating what is ready for implementation.  Finally, these actions will evaluate existing public health efforts as to their benefits and harms and inform the next generation of public health interventions.

We will continue to work with our many partners in the US and globally to chart the course of public health genomics to ensure the success of genomics technologies in improving the health of all people.

*This blog post was originally published at Genomics and Health Impact Blog*


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Richmond, VA – In an effort to simplify inpatient medical billing, one area hospitalist group has determined that “altered mental status” (ICD-9 780.97) is the most efficient code for use in any patient work up.

“When you enter a hospital, you’re bound to have some kind of mental status change,” said Dr. Fishbinder, co-partner of Area Hospitalists, PLLC. “Whether it’s confusion about where your room is located in relationship to the visitor’s parking structure, frustration with being woken up every hour or two to check your vital signs, or just plain old fatigue from being sick, you are not thinking as clearly as before you were admitted. And that’s all the justification we need to order anything from drug and toxin screens, to blood cultures, brain MRIs, tagged red blood cell nuclear scans, or cardiac Holter monitoring. There really is no limit to what we can pursue with our tests.”

Common causes of mental status changes in the elderly include medicine-induced cognitive side effects, disorientation due to disruption in daily routines, age-related memory impairment, and urinary tract infections.

“The urinalysis is not a very exciting medical test,” stated Dr. Fishbinder. “It doesn’t matter that it’s cheap, fast, and most likely to provide an explanation for strange behavior in hospitalized patients. It’s really not as elegant as the testing involved in a chronic anemia or metabolic encephalopathy work up. I keep it in my back pocket in case all other tests are negative, including brain MRIs and PET scans.”

Nursing staff at Richmond Medical Hospital report that efforts to inform hospitalists about foul smelling urine have generally fallen on deaf ears. “I have tried to tell the hospitalists about cloudy or bloody urine that I see in patients who are undergoing extensive work ups for mental status changes,” reports nurse Sandy Anderson. “But they insist that ‘all urine smells bad’ and it’s really more of a red herring.”

Another nurse reports that delay in diagnosing urinary tract infections (while patients are scheduled for brain MRIs, nuclear scans, and biopsies) can lead to worsening symptoms which accelerate and expand testing. “Some of my patients are transferred to the ICU during the altered mental status work up,” states nurse Anita Misra. “The doctors seem to be very excited about the additional technology available to them in the intensive care setting. Between the central line placement, arterial blood gasses, and vast array of IV fluid and medication options, urosepsis is really an excellent entré into a whole new level of care.”

“As far as medicine-induced mental status changes are concerned,” added Dr. Fishbinder, “We’ve never seen a single case in the past 10 years. Today’s patients are incredibly resilient and can tolerate mixes of opioids, anti-depressants, anti-histamines, and benzodiazepines without any difficulty. We know this because most patients have been prescribed these cocktails and have been taking them for years.”

Patient family members have expressed gratitude for Dr. Fishbinder’s diagnostic process, and report that they are very pleased that he is doing everything in his power to “get to the bottom” of why their loved one isn’t as sharp as they used to be.

“I thought my mom was acting strange ever since she started taking stronger pain medicine for her arthritis,” says Nelly Hurtong, the daughter of one of Dr. Fishbinder’s inpatients. “But now I see that there are deeper reasons for her ‘altered mental status’ thanks to the brain MRI that showed some mild generalized atrophy.”

Hospital administrators praise Dr. Fishbinder as one of their top physicians. “He will do whatever it takes to figure out the true cause of patients’ cognitive impairments.” Says CEO, Daniel Griffiths. “And not only is that good medicine, it is great for our Press Ganey scores and our bottom line.”

As for the nursing staff, Griffiths offered a less glowing review. “It’s unfortunate that our nurses seem preoccupied with urine testing and medication reconciliation. I think it might be time for us to mandate further training to help them appreciate more of the medical nuances inherent in quality patient care.”

Dr. Fishbinder is in the process of creating a half-day seminar on ‘altered mental status in the inpatient setting,’ offering CME credits to physicians who enroll. Richmond Medical Hospital intends to sponsor Dr. Fishbinder’s course, and franchise it to other hospitals in the state, and ultimately nationally.

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