For decades, newborn screening was the only public health program in the US focused on reducing morbidity, mortality and disability in people affected by genetic conditions. The landscape has changed, however, as evidence-based recommendations are now available for several other genomic applications that can save lives now in the US. Many more such applications are expected to emerge in the next decade. An action plan, based on evidence, provides the impetus for a new paradigm for public health practice in genomics across the lifespan using established multilevel processes as a guide. These include policy interventions, education, clinical interventions, and surveillance. Applying what we know today in hereditary breast/ovarian cancer, Lynch syndrome and familial hypercholesterolemia has the potential to affect thousands of people in the US population every year. Enhanced partnerships between genetic and nongenetic providers of clinical medicine and public health are needed to overcome the challenges for implementing genomic medicine applications both now and in the future.

1.
GAPP Knowledge Base. http://www.hugenavigator.net/GAPPKB/ (accessed February 29, 2012).
2.
The National Human Genome Research Institute: Appendix 5. The history of newborn phenylketonuria screening in the U.S. http://biotech.law.lsu.edu/research/fed/tfgt/appendix5.htm (accessed February 29, 2012).
3.
Department of Health and Human Services: Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. 2011. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/ (accessed February 29, 2012).
4.
Howell RR: Current practices and expansion of newborn screening. 2011. http://www.cdc.gov/about/grand-rounds/archives/2011/pdfs/GREHRAllFINAL18AUG2011.pdf (accessed February 29, 2012).
5.
Khoury MJ, Bowen MS, Burke W, Coates RJ, Dowling NF, Evans JP, Reyes M, St Pierre J: Current priorities for public health practice in addressing the role of human genomics in improving population health. Am J Prev Med 2011;40:486–493.
6.
U.S. Preventive Services Task Force: Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 2005;143:355–361.
7.
National Institute for Help and Clinical Excellence: CG71 familial hypercholesterolaemia: NICE guideline. 2010. http://guidance.nice.org.uk/CG71/NICEGuidance/pdf/English (accessed February 29, 2012).
8.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group: Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009;11:35–41.
9.
Healthy People.gov: 2020 Topics & Objectives, Genomics. 2012. http://www.healthypeople.gov/2020/topicsobjectives2020/objectiveslist.aspx?topicId=15 (accessed February 29, 2012).
10.
Bellcross C, Bedrosian SR, Daniels E, Duquette D, Hampel H, Jasperson K, Joseph DA, Kaye C, Lubin I, Meyer LJ, Reyes M, Scheuner MT, Schully SD, Senter L, Stewart SL, St Pierre J, Westman J, Wise P, Yang VW, Khoury MJ: Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med 2012;14:152–162.
11.
Khoury MJ: From genes to public health: the applications of genetic technology in disease prevention. Genetics Working Group. Am J Public Health 1996;86:1717–1722.
12.
Frieden TR: A framework for public health action: the health impact pyramid. Am J Public Health 2010;100:590–595.
13.
Duquette D, Lewis K, McLosky J, Bach J: Using core public health functions to promote BRCA best practices among health plans. Public Health Genomics 2012;15:92–97.
15.
Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ: Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 2011; 40:61–66.
16.
National Cancer Institute: Breast Cancer. 2012. http://www.cancer.gov/cancertopics/types/breast (accessed February 29, 2012).
17.
National Cancer Institute: Ovarian Cancer. 2012. http://www.cancer.gov/cancertopics/types/ovarian (accessed February 29, 2012).
18.
National Cancer Institute: BRCA1 and BRCA2: Cancer Risk and Genetic Testing. 2009. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA#r4 (accessed February 29, 2012).
19.
Hall MJ, Olopade OI: Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol 2006;24:2197–2203.
20.
Hampel H, de la Chapelle A: The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res (Phila) 2011;4:1–5.
21.
Mvundura M, Grosse SD, Hampel H, Palomaki GE: The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010;12:93–104.
22.
Ned RM, Sijbrands EJ: Cascade screening for familial hypercholesterolemia (FH). PLoS Curr 2011;3:RRN1238.
23.
Risk of fatal coronary heart disease in familial hypercholesterolemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303:893–896.
24.
Hunt SC, Gwinn M, Adams T: Family history assessment: strategies for prevention of cardiovascular disease. Am J Prev Med 2003;24:136–142.
25.
Grosse SD, Van Vliet G: Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? Arch Dis Child 2011;96:374–379.
26.
Centers for Disease Control and Prevention: Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment – United States, 2003. MMWR Morb Mortal Wkly Rep 2004;53:57–59.
27.
Grosse SD: How much does IQ raise earnings? Implications for regulatory impact analyses. AERE NL 2007;27:17–21.
28.
Grosse SD: Education cost savings from early detection of hearing loss: new findings. Volta V 2007;14:38–40.
29.
Tengs TO, Berry DA: The cost effectiveness of testing for the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes: a decision analysis. Dis Manage Clin Outcomes 2000;2:15–24.
30.
Balmaña J, Sanz J, Bonfill X, Casado A, Rué M, Gich I, Díez O, Sabaté JM, Baiget M, Alonso MC: Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio. Int J Cancer 2004;112:647–652.
31.
Anderson K, Jacobson JS, Heitjan DF, Zivin JG, Hershman D, Neugut AI, Grann VR: Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med 2006;144:397–406.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.