p u b l i c h e a l t h 1 2 7 ( 2 0 1 3 ) 9 7 8 e9 8 0
Available online at www.sciencedirect.com
Public Health journal homepage: www.elsevier.com/puhe
Public Health Genomics Essay Competition – Runner Up
Success in public health genomics: beyond the ACCE criteria S.M. Modell* Center for Public Health and Community Genomics, University of Michigan School of Public Health, Rm. 4605, SPH Tower/Crossroads, 1415 Washington Heights, Ann Arbor, MI 48109-2029, USA
article info Article history: Received 29 April 2013 Received in revised form 23 September 2013 Accepted 24 September 2013 Available online 18 November 2013
Introduction: going beyond the ACCE criteria In judging the future success of a field of activity such as public health genomics, the criteria will tend to ‘layer-out’ into a micro- or finely detailed view, and a macro-view, one that takes in the big picture. To date professionals in the field have been strongly focused on judging the viability of new forms of genetic testing using the ACCE criteria (analytical and clinical criteria and ethical, legal and social considerations; http:// www.cdc.gov/genomics/gtesting/ACCE).1 This framework has been used to evaluate many categories of genetic tests, but cannot really be used to judge the field as a whole. Further, fundability of the field’s various assessment and educational efforts is important, but is more of an aim than a measure of success, and varies greatly with the funding climate. It is important that the field begin to distinguish itself in people’s minds and in what it does. Grant and article reviewers, and consumers, need to gain an appreciation that here is a field centred on conditions which strike large populations and not just single individuals, and that prioritizes the well-being of communities. Thus, public health is giving
its attention to Lynch syndrome, a form of hereditary colorectal cancer with a population prevalence of 1:440 individuals, as opposed to Peutz-Jeghers syndrome, a rare (1-in300,000 births) condition involving gastrointestinal polyps seen in the clinical context, and has other tiered situations, such as gene expression profiling for familial breast cancer, up for consideration. Today’s Tier 2 tests, now being assessed for utility,2 will be tomorrow’s public health programs. The argument could be mustered that prevalence should not be a primary criterion directing current and future public health effort; that other criteria within the ACCE technical and WilsoneJungner World Health Organization screening program ethical frameworks should also be counted; and that their satisfaction also constitutes success.1 Criteria such as urgency and severity are definitely recognized in public health programs, newborn screening being the foremost example. Indeed, the U.S. Department of Health and Human Services (HRSA) has included 31 urgent core conditions in its Recommended Uniform Screening Panel,3 and this panel is rapidly becoming part of newborn screening programs throughout the United States. The point is that in order to catch those individuals who will benefit, it is necessary to screen the vast newborn population within a state or country, which is a coordinated affair that requires public health efforts beyond strictly medical services. Now and in the future, public health is in a unique position to tailor its efforts to those conditions of greater (e.g., newborn metabolic enzyme deficiencies indigenous to Middle Eastern and Japanese populations) and reportedly lesser (e.g., phenylketonuria (PKU) in Finnish populations) significance for diverse racial-ethnic communities.1,4 The beginning of success in public health genomics is appreciation of the unique population focus of the field now and in the future; the intermediate signs of success reside in
* Tel.: þ1 734 615 3141; fax: þ1 734 764 1357. E-mail address: [email protected]. 0033-3506/$ e see front matter ª 2013 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.puhe.2013.09.015
p u b l i c h e a l t h 1 2 7 ( 2 0 1 3 ) 9 7 8 e9 8 0
the expansion of guidelines and educational programs that impact consumers and professionals; and a final hallmark of success lies in the numbers of people impacted by public health interventions.
Outcomes as success indicators Numbers of people impacted is a ‘T4 research measure’ which looks at and evaluates outcomes. The results of T4 research have the potential to improve both public health and clinical efforts.5 Sudden cardiac death of the young (SCDY) has become a poster child condition for public health efforts because of the number of deaths connected with it that could be prevented through early screening (including use of family history), detection, and treatment. Its most common causes in people less than 30 years of age are hereditary arrhythmias and cardiomyopathy. Some 3000 unexpected deaths from the heart arrhythmia condition long QT syndrome could be prevented each year if the children and young adults at-risk could be detected early and receive adequate attention.6 The numbers would double if the wider family of genetic cardiac arrhythmias were to be assiduously monitored through clinical surveillance and follow-up of cases appearing in sudden cardiac death databases. These opportunities are currently being partially addressed, awaiting consummation by tomorrow’s public health professionals. It should be noted that success in public health relates to the condition at hand; no one age group is off-limits from the attention of public health practitioners. For the broader category of sudden cardiac death of the young, heart arrhythmias and dilated cardiomyopathy, involving weakening and enlargement of the heart as a cause, merit detection between 1 and 29 years of age, while for atherosclerotic cardiovascular disease, the most commonly reported underlying cause of SCDY, risk detection between ages 30 and 40 is the goal.7
Success and the spectrum of prevention Though public health genomics as a whole is agnostic with respect to the age groups receiving its services, primary (predispositional) and secondary (early stage) prevention are of special interest. This characteristic will continue to be what distinguishes public health endeavours from other forms of health care. Success in this respect, however, has been measured differently in different countries. In the United Kingdom, where it is estimated that w11% of births in ethnic minority groups, including those of African descent, are at risk for haemoglobin disorders, success is measured in terms of numbers of births with beta-thalassaemia averted.8 Awareness-raising among couples at risk for this potentially fatal condition, the extent of counselling, is a secondary measure. These gauges of success take the micro-view of what is good for the population, however. They are focused on the purely quantitative e on numbers of individuals. The spread of primary prevention efforts may also be considered an achievement. ‘Phenoprevention’ is concerned with retarding or halting the overt manifestation of disease. Primary
979
phenoprevention tackling risk reduction from environmental exposures must continue to be a mainstay of public health effort. Significant progress will be made when public health genomics begins to incorporate standards and testing for some of the 213 genes reported to be involved in the uptake and metabolism of chemicals in the body, and moves more deeply into the assessment of prenatal risk through epigenetic testing.9 Newborn screening, the most prominent form of secondary phenoprevention, must continue to refresh itself through consensus building on candidate conditions by HRSAa, SACHDNCb, and other decision making bodies. Public health is yet to achieve a proper balance on the amount of energy it devotes to tertiary (after-the-fact) prevention, which includes use of gene expression profiling to avoid breast cancer recurrence and spread. All these efforts can be assessed in terms of dissemination, education, and programmatic start-up, thus can escape the straightjacket of success being solely equated with numbers of cases averted. The macro-view of what is being done along the spectrum of public health activity takes precedence.
Conclusion: towards healthy criteria of success One question that is always worth addressing is: ‘What is the value added to currently existing services?’. We need to look broadly at public health endeavours as they touch multiple disease areas. The Michigan Department of Community Health’s engagement of over twenty state professional organizations and advocacy groups in the approval and usage of a sudden cardiac death medical history form in school athletic departments, its professional and consumer SCDY educational efforts e estimated to have reached over 10,000 individuals, and work on integrating SCD cases into an electronic death certificate reporting system constitute marked progress.7 Public health authorities must also continue to work with federal programs such as Medicaid, Medicare, and Federally Qualified Health Centers to make cancer genetic testing and cancer treatments available to the underserved. These are a few examples of valued added services that point the way to further valuations of success as the field continues to march forward. Two final indicators of ‘health’ in an evolving field are capacity to deal with new developments, and ability to selfmonitor, especially to self-criticize. New and incipient developments in public health genomics include the rise of newborn and prenatal biobanks (Denmark, Michigan, Connecticut (under consideration)); the promotion of cascade screening among successive family members;10 and the continued validation of a tiered list of genetic conditions for population screening.2 But there remain pockets of areas that remain under contention, such as the proper balance of funding for genetic vs environmental efforts5 (argued in the recent ‘Priorities for Public Health Genomics 2012e2017’ report (http://genomicsforum.org/files/geno_report_WEB_w_ RFI_1122rev.pdf) and earlier at the Human Genetics and Environmental Justice conference hosted by West Harlem a b
Health Resources and Services Administration Secretary’s Advisory Committee on Heritable Disorders
980
p u b l i c h e a l t h 1 2 7 ( 2 0 1 3 ) 9 7 8 e9 8 0
Environmental Action (WE ACT)); the appropriate fit of pharmacogenomics and personalized risk assessment into public health efforts; and the extent to which states should adopt whole genome sequencing into newborn screening programs.11 Just as a little bit of self-humour is a good sign, so is a little bit of self-criticalness in a field still being consolidated. That is why the reviews and self-assessments performed by the CDC-OPHG in the United States and the Public Health Genomics European Network (PHGEN) merit praise as signs of maturity and vigour. Yes, numbers of tests validated (the ACCE criteria) and cases averted are important, but it is the macro-view of programmatic value-added services and the maintenance of a self-reflective and self-innovating process that will be the final arbiter of success in public health genomics.
Author statements
2.
3.
4.
5.
Ethical approval 6.
None sought.
Funding
7.
None declared.
Competing interests
8.
None declared. 9.
references 10. 1. Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC. Genetic testing and common disorders in a public health
11.
framework: how to assess relevance and possibilities: background document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet 2011;19:S6e44. United States Centers for Disease Control and Prevention, Office of Public Health Genomics (CDC-OPHG). Genomic tests and family history by levels of evidence. Available at: http://www. cdc.gov/genomics/gtesting/tier.htm; 2012 (accessed 5 October 2012). United States Department of Health and Human Services, Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Recommended uniform screening panel. Available at: http://www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/recommendedpanel; 2013 (accessed 23 September 2013). Citrin T, Modell SM. Racial/ethnic communities and newborn screening policies. In: Baily MA, Murray TH, editors. Ethics and newborn genetic screening: new technologies, new challenges. Baltimore, MD: Johns Hopkins University Press; 2009. pp. 160e77. Khoury MJ, Gwinn M, Bowen MS, Dotson WD. Beyond base pairs to bedside: a population perspective on how genomics can improve health. Am J Public Health 2011;102:34e7. Modell SM, Bradley DJ, Lehmann MH. Genetic testing for long QT syndrome and the category of cardiac ion channelopathies. PLoS Curr; 3 May 2012::e4. Michigan Department of Community Health (MDCH). Too young to die: an update on the impact of sudden cardiac death of the young in Michigan, 1999e2011. Available at: http://www. michigan.gov/documents/mdch/6-18_SCDY_Report_FINAL_ June2012_389619_7.pdf; 2011 (accessed 27 April 2013). Hogg C, Modell B. Sickle cell and thalassaemia: achieving health gain. London, UK: Health Education Authority. Available at: http://www.nice.org.uk/nicemedia/documents/scell_ thalasmia_healthgain.pdf; 1998 (accessed 27 April 2013). Olden K, Freudenberg N, Dowd J, Shields AE. Discovering how environmental exposures alter genes could lead to new treatments for chronic illnesses. Health Aff 2011;30:833e41. Bowen MS, Kolor K, Dotson WD, Ned RM, Khoury MJ. Public health action in genomics is now needed beyond newborn screening. Public Health Genomics 2012;15:327e34. National Institutes of Health. NIH program explores the use of genomic sequencing in newborn healthcare. Available at: http:// www.nih.gov/news/health/sep2013/nhgri-04.htm; 2013 (accessed 23 September 2013).
Available online at www.sciencedirect.com
Public Health journal homepage: www.elsevier.com/puhe
Public Health Genomics Essay Competition – Runner Up
Success in public health genomics: beyond the ACCE criteria S.M. Modell* Center for Public Health and Community Genomics, University of Michigan School of Public Health, Rm. 4605, SPH Tower/Crossroads, 1415 Washington Heights, Ann Arbor, MI 48109-2029, USA
article info Article history: Received 29 April 2013 Received in revised form 23 September 2013 Accepted 24 September 2013 Available online 18 November 2013
Introduction: going beyond the ACCE criteria In judging the future success of a field of activity such as public health genomics, the criteria will tend to ‘layer-out’ into a micro- or finely detailed view, and a macro-view, one that takes in the big picture. To date professionals in the field have been strongly focused on judging the viability of new forms of genetic testing using the ACCE criteria (analytical and clinical criteria and ethical, legal and social considerations; http:// www.cdc.gov/genomics/gtesting/ACCE).1 This framework has been used to evaluate many categories of genetic tests, but cannot really be used to judge the field as a whole. Further, fundability of the field’s various assessment and educational efforts is important, but is more of an aim than a measure of success, and varies greatly with the funding climate. It is important that the field begin to distinguish itself in people’s minds and in what it does. Grant and article reviewers, and consumers, need to gain an appreciation that here is a field centred on conditions which strike large populations and not just single individuals, and that prioritizes the well-being of communities. Thus, public health is giving
its attention to Lynch syndrome, a form of hereditary colorectal cancer with a population prevalence of 1:440 individuals, as opposed to Peutz-Jeghers syndrome, a rare (1-in300,000 births) condition involving gastrointestinal polyps seen in the clinical context, and has other tiered situations, such as gene expression profiling for familial breast cancer, up for consideration. Today’s Tier 2 tests, now being assessed for utility,2 will be tomorrow’s public health programs. The argument could be mustered that prevalence should not be a primary criterion directing current and future public health effort; that other criteria within the ACCE technical and WilsoneJungner World Health Organization screening program ethical frameworks should also be counted; and that their satisfaction also constitutes success.1 Criteria such as urgency and severity are definitely recognized in public health programs, newborn screening being the foremost example. Indeed, the U.S. Department of Health and Human Services (HRSA) has included 31 urgent core conditions in its Recommended Uniform Screening Panel,3 and this panel is rapidly becoming part of newborn screening programs throughout the United States. The point is that in order to catch those individuals who will benefit, it is necessary to screen the vast newborn population within a state or country, which is a coordinated affair that requires public health efforts beyond strictly medical services. Now and in the future, public health is in a unique position to tailor its efforts to those conditions of greater (e.g., newborn metabolic enzyme deficiencies indigenous to Middle Eastern and Japanese populations) and reportedly lesser (e.g., phenylketonuria (PKU) in Finnish populations) significance for diverse racial-ethnic communities.1,4 The beginning of success in public health genomics is appreciation of the unique population focus of the field now and in the future; the intermediate signs of success reside in
* Tel.: þ1 734 615 3141; fax: þ1 734 764 1357. E-mail address: [email protected]. 0033-3506/$ e see front matter ª 2013 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.puhe.2013.09.015
p u b l i c h e a l t h 1 2 7 ( 2 0 1 3 ) 9 7 8 e9 8 0
the expansion of guidelines and educational programs that impact consumers and professionals; and a final hallmark of success lies in the numbers of people impacted by public health interventions.
Outcomes as success indicators Numbers of people impacted is a ‘T4 research measure’ which looks at and evaluates outcomes. The results of T4 research have the potential to improve both public health and clinical efforts.5 Sudden cardiac death of the young (SCDY) has become a poster child condition for public health efforts because of the number of deaths connected with it that could be prevented through early screening (including use of family history), detection, and treatment. Its most common causes in people less than 30 years of age are hereditary arrhythmias and cardiomyopathy. Some 3000 unexpected deaths from the heart arrhythmia condition long QT syndrome could be prevented each year if the children and young adults at-risk could be detected early and receive adequate attention.6 The numbers would double if the wider family of genetic cardiac arrhythmias were to be assiduously monitored through clinical surveillance and follow-up of cases appearing in sudden cardiac death databases. These opportunities are currently being partially addressed, awaiting consummation by tomorrow’s public health professionals. It should be noted that success in public health relates to the condition at hand; no one age group is off-limits from the attention of public health practitioners. For the broader category of sudden cardiac death of the young, heart arrhythmias and dilated cardiomyopathy, involving weakening and enlargement of the heart as a cause, merit detection between 1 and 29 years of age, while for atherosclerotic cardiovascular disease, the most commonly reported underlying cause of SCDY, risk detection between ages 30 and 40 is the goal.7
Success and the spectrum of prevention Though public health genomics as a whole is agnostic with respect to the age groups receiving its services, primary (predispositional) and secondary (early stage) prevention are of special interest. This characteristic will continue to be what distinguishes public health endeavours from other forms of health care. Success in this respect, however, has been measured differently in different countries. In the United Kingdom, where it is estimated that w11% of births in ethnic minority groups, including those of African descent, are at risk for haemoglobin disorders, success is measured in terms of numbers of births with beta-thalassaemia averted.8 Awareness-raising among couples at risk for this potentially fatal condition, the extent of counselling, is a secondary measure. These gauges of success take the micro-view of what is good for the population, however. They are focused on the purely quantitative e on numbers of individuals. The spread of primary prevention efforts may also be considered an achievement. ‘Phenoprevention’ is concerned with retarding or halting the overt manifestation of disease. Primary
979
phenoprevention tackling risk reduction from environmental exposures must continue to be a mainstay of public health effort. Significant progress will be made when public health genomics begins to incorporate standards and testing for some of the 213 genes reported to be involved in the uptake and metabolism of chemicals in the body, and moves more deeply into the assessment of prenatal risk through epigenetic testing.9 Newborn screening, the most prominent form of secondary phenoprevention, must continue to refresh itself through consensus building on candidate conditions by HRSAa, SACHDNCb, and other decision making bodies. Public health is yet to achieve a proper balance on the amount of energy it devotes to tertiary (after-the-fact) prevention, which includes use of gene expression profiling to avoid breast cancer recurrence and spread. All these efforts can be assessed in terms of dissemination, education, and programmatic start-up, thus can escape the straightjacket of success being solely equated with numbers of cases averted. The macro-view of what is being done along the spectrum of public health activity takes precedence.
Conclusion: towards healthy criteria of success One question that is always worth addressing is: ‘What is the value added to currently existing services?’. We need to look broadly at public health endeavours as they touch multiple disease areas. The Michigan Department of Community Health’s engagement of over twenty state professional organizations and advocacy groups in the approval and usage of a sudden cardiac death medical history form in school athletic departments, its professional and consumer SCDY educational efforts e estimated to have reached over 10,000 individuals, and work on integrating SCD cases into an electronic death certificate reporting system constitute marked progress.7 Public health authorities must also continue to work with federal programs such as Medicaid, Medicare, and Federally Qualified Health Centers to make cancer genetic testing and cancer treatments available to the underserved. These are a few examples of valued added services that point the way to further valuations of success as the field continues to march forward. Two final indicators of ‘health’ in an evolving field are capacity to deal with new developments, and ability to selfmonitor, especially to self-criticize. New and incipient developments in public health genomics include the rise of newborn and prenatal biobanks (Denmark, Michigan, Connecticut (under consideration)); the promotion of cascade screening among successive family members;10 and the continued validation of a tiered list of genetic conditions for population screening.2 But there remain pockets of areas that remain under contention, such as the proper balance of funding for genetic vs environmental efforts5 (argued in the recent ‘Priorities for Public Health Genomics 2012e2017’ report (http://genomicsforum.org/files/geno_report_WEB_w_ RFI_1122rev.pdf) and earlier at the Human Genetics and Environmental Justice conference hosted by West Harlem a b
Health Resources and Services Administration Secretary’s Advisory Committee on Heritable Disorders
980
p u b l i c h e a l t h 1 2 7 ( 2 0 1 3 ) 9 7 8 e9 8 0
Environmental Action (WE ACT)); the appropriate fit of pharmacogenomics and personalized risk assessment into public health efforts; and the extent to which states should adopt whole genome sequencing into newborn screening programs.11 Just as a little bit of self-humour is a good sign, so is a little bit of self-criticalness in a field still being consolidated. That is why the reviews and self-assessments performed by the CDC-OPHG in the United States and the Public Health Genomics European Network (PHGEN) merit praise as signs of maturity and vigour. Yes, numbers of tests validated (the ACCE criteria) and cases averted are important, but it is the macro-view of programmatic value-added services and the maintenance of a self-reflective and self-innovating process that will be the final arbiter of success in public health genomics.
Author statements
2.
3.
4.
5.
Ethical approval 6.
None sought.
Funding
7.
None declared.
Competing interests
8.
None declared. 9.
references 10. 1. Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC. Genetic testing and common disorders in a public health
11.
framework: how to assess relevance and possibilities: background document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet 2011;19:S6e44. United States Centers for Disease Control and Prevention, Office of Public Health Genomics (CDC-OPHG). Genomic tests and family history by levels of evidence. Available at: http://www. cdc.gov/genomics/gtesting/tier.htm; 2012 (accessed 5 October 2012). United States Department of Health and Human Services, Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Recommended uniform screening panel. Available at: http://www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/recommendedpanel; 2013 (accessed 23 September 2013). Citrin T, Modell SM. Racial/ethnic communities and newborn screening policies. In: Baily MA, Murray TH, editors. Ethics and newborn genetic screening: new technologies, new challenges. Baltimore, MD: Johns Hopkins University Press; 2009. pp. 160e77. Khoury MJ, Gwinn M, Bowen MS, Dotson WD. Beyond base pairs to bedside: a population perspective on how genomics can improve health. Am J Public Health 2011;102:34e7. Modell SM, Bradley DJ, Lehmann MH. Genetic testing for long QT syndrome and the category of cardiac ion channelopathies. PLoS Curr; 3 May 2012::e4. Michigan Department of Community Health (MDCH). Too young to die: an update on the impact of sudden cardiac death of the young in Michigan, 1999e2011. Available at: http://www. michigan.gov/documents/mdch/6-18_SCDY_Report_FINAL_ June2012_389619_7.pdf; 2011 (accessed 27 April 2013). Hogg C, Modell B. Sickle cell and thalassaemia: achieving health gain. London, UK: Health Education Authority. Available at: http://www.nice.org.uk/nicemedia/documents/scell_ thalasmia_healthgain.pdf; 1998 (accessed 27 April 2013). Olden K, Freudenberg N, Dowd J, Shields AE. Discovering how environmental exposures alter genes could lead to new treatments for chronic illnesses. Health Aff 2011;30:833e41. Bowen MS, Kolor K, Dotson WD, Ned RM, Khoury MJ. Public health action in genomics is now needed beyond newborn screening. Public Health Genomics 2012;15:327e34. National Institutes of Health. NIH program explores the use of genomic sequencing in newborn healthcare. Available at: http:// www.nih.gov/news/health/sep2013/nhgri-04.htm; 2013 (accessed 23 September 2013).
