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Logo of nihpaAbout Author manuscriptsSubmit a manuscriptNIH Public Access; Author Manuscript; Accepted for publication in peer reviewed journal;
 
Acta Crystallogr B. Author manuscript; available in PMC Mar 1, 2009.
Published in final edited form as:
PMCID: PMC2391006
NIHMSID: NIHMS41875
Genetic and Genomic Public Health Strategies: Imperatives for Neonatal Nursing Genetic Competency
Pamela S Holtzclaw Williams, JD, MS, RN
Pamela S Holtzclaw Williams, University of Washington School of Nursing and Public Health Genetics Doctoral Student & T32 Trainee, University of Washington Biobehavioral Nursing and Public Health Genetics;
Complete Contact Information: 1900 22nd Ave E Seattle, WA 98112 (206) 324-2030 ; Willip2/at/u.washington.edu
Genetics and genomics are emerging as the central science for 21st century health care. Proficient nursing care incorporates this central science. Nursing genetic competency includes anticipating future demands spurred by knowledge advancement. Three emerging public health areas that call for future neonatal nursing genetic competency development will be discussed here: increasing emphasis on neonatal family health histories, population genetic biobanking, and family genetic advocacy. Neonatal nurses can develop genetic competency by targeting: 1) Collaborative efforts between nurse and family regarding neonatal family health history preparation and understanding its genetic implications; 2) Referrals to and partnerships with genetic advocacy groups in programs that empower neonate's families; 3) Familiarity with biobank practices that interface nursing care domains.
Genetics and genomics are emerging as the central science for health care in the 21st century. Significant neonatal and family nursing leadership, along with other healthcare specialty group leaders, recently endorsed this consensus position. This position is part of the larger endorsed “Essential Competencies” consensus document, adopted by healthcare organizations (see Table 1), that also states that competent nursing practice now require the responsibility to incorporate genetic knowledge and skills. Also explicit in the “Essential Competencies” document is that genetic nursing competency includes assuming responsibility to identify areas in which professional development related to genetics would be beneficial.1 This article identifies and describes three genetic and genomic based public health (GGBPH) strategies that show potential benefit for neonatal care delivery. They include: 1) the increasing meaning and power of newborns' family health history, 2) population based genetic biobanks, and 3) parental genetic activism. All three provide foundations for future developments in nursing care of infants and their families.. These GGBPH strategies are designed for implementation in clinical, research and family environmental settings; the same settings where neonatal nurses practice. They present key target areas where a foundation is already established to develop and maintain essential genetic competency in healthcare delivery to newborns. A major purpose of the article is to relate these GGBPH strategic areas to neonatal nursing and point out their potential for raising significant questions for nursing research, knowledge generation, and clinical intervention development. Central to the discussion is the belief that developing and enabling genetic competency for nursing care of newborns and infants is essential to the profession. 1
Table 1
Table 1
Essential Competencies1
Development of future neonatal nursing genetic competencies in the three strategic areas discussed in this article occurs against a background of recent diverse publicly articulated genetic and genomic healthcare agendas. Table 2 provides contextual examples of some recent key public health genetic legislation and genetic advocacy position statements.
Table 2
Table 2
Examples of public health genetic policies, statements, & interventions influencing genetic components of neonatal health
Perhaps this decade's public health genetic policy response most familiar to neonatal nurses is the state mandated genetic screening and testing at birth. Increasingly implemented preconception or prenatal screening and testing have also become more familiar.2, 3 An area not yet receiving as much attention is healthcare's response to new genetic knowledge for care for neonates' with, or genetically predisposed for, complex conditions. Complex conditions are those attributable to combinations of heritable genetic predisposition and environmental components, such as infant asthma.4 An infant's genetic predisposition for complex conditions, determined by a detailed family health history, now offers significant information for health assessment and diagnosis.
Family health history assessment training exists in current nursing and medical school curricula, yet thorough consideration of this information is often overlooked in clinical settings.5, 6 Nurses caring for newborns and infants exercise genetic competency by placing increased clinical emphasis on the family health history in assessments. This is because this old familiar tool is now characterized as the primary “predictive genetic test” in primary care.5 It is anachronous that knowledge of genetic components related to disease is touted as a new, and for many a foreign paradigm for approaching healthcare. Instead, family health history, the primary tool for assessing genetic components is decades old, underused, relatively simple, and very familiar to nurses.
Neonatal nurses demonstrate genetic competence by reconsidering the new meaning and power of an infants' family health history for both heritable and complex genetic disorders.7 Newborns' family health histories are uniquely valuable to communicate risks where infancy allows no verbalization of symptoms and poses particular diagnostic measurement logistics. Consider underdiagnosed and undertreated infant asthma as an example of a complex condition with known genetic etiological components. Because measurement challenges (e.g. peak flow meters, spirometers, and lack of infancy inflammation marker technology) make definitive diagnosis difficult in infancy, the infants family health history is currently being considered a best indicator of probability of an infant genetically “at risk” for asthma.4
The new meaning and power of the family health history in context of genetic and genomic components to health has led to GGBPH interventions for implementation by families themselves. The CDC and the US Surgeon General have designed websites to facilitate families' preparation of their own health history: Family History Web site for the Public- http://www.cdc.gov/genomics/public/famhist.html and US Surgeon General's Family History Initiative- http://www.cdc.gov/genomics/public/famhist.html. These GGBPH strategies empower family participation in screening for genetic predisposition risks, and offer potential for parent/nurse collaboration for newborn health promotion.
Population based genetic biobanks (PBG biobanks) referred to in this article, are those repositories of donated human DNA and/or its information, collected from consenting persons or their surrogates, with or without disease, which is used for scientific exploration of genes that contribute to human disease. Federal legislation is involved in contemplating future development of statewide and national PBG biobanks.8-10 PBG biobanks do not currently exist in the US but are forecasted on the coming healthcare horizon. 10, 11 They are currently established in some European countries, Iceland, Japan, the Kingdom of Tonga, and Singapore. 10, 12 Canada also proposes collecting newborn genetic samples from a national cohort of Canadian infants to investigate genetic, psychological, and environmental interactions from birth to age 20.10 Nursing has yet to develop evidence based knowledge regarding its role in these GGBPH strategies and how best to manage risks of patient participation. A recently developed nursing conceptual framework has potential to stimulate scientific questions for neonatal nursing clinical practice, nurse-patient relationships and measurement instrument designs relevant to PBG biobank participation risks.13 Nursing has also considered an ethical assessment framework for addressing ethical issues that arise in genetics clinical practice.14 Although nursing's conceptual framework and ethical assessment framework are not tailored specifically to neonatal nursing practice, they are both adaptable to frame research surrounding ethical issues that arise in newborns' participation in PBG biobanks. Afor A call for nursing to develop skills in counseling families regarding newborns' risks in biobank participation exists when considering recently established public laws described in Table 2. The urgency is spurred by the 2006 announcement that a leading children's hospital would begin collecting DNA from infants and children in its hospital setting.15 Neonatal nurses, pursuant to recent consensus on genetic competency standards (See Table 1), must develop proficiency in counseling families of infants on the risks, choices and benefits involved in consenting to contribute DNA to biobanks.
Discussions of ethical issues for persons providing DNA to biobanks currently question whether 1) lack of details regarding the DNA's future use circumvents informed consent 2) potential risk of privacy and misuse of genetic information outweighs benefit to an actual DNA provider and 3) right to withdraw is unprotected once DNA is given.16-18 Additional perceived risks to biobank participants that may effect willingness to participate include: 1) pain or bruising associated with blood draw, 2) inconvenience of follow up communications to update information, 3) genetic information from research staff conveyed to participants might emotionally upset a family and 4) insurability or employability problems caused by future unauthorized use of genetic information.19 Neonatal nursing staffs will be challenged to maintain genetic competence in advising on these issues to a degree needed for supporting parental decision-making in the biobanking consent process.
Will neonatal nurses who collect DNA samples be caring for conflicting interests of both present and future infants? Is it ethical to facilitate DNA contributions for research that benefits future neonates, at some yet to be quantified risk to the present neonate in the nurse's care? These are typical ethics questions that may face neonatal nurses. Neonatal nurses will need to self-monitor whether their employer's biobank consent protocol compromises the nurse's protection of and advocacy for the newborn patient in order to facilitate research for future, unknown beneficiaries. Nursing has already identified that a component of genetic nursing competency includes understanding ethical, policy and practice issues resulting from introduction of genetic testing into health care in order to minimize risk of harm to the patient, protect privacy rights and consider benefits vs. risk contexts.20 Likewise, understanding ethical, policy, and practice issues of biobank facilitation and participation in healthcare settings is a component of genetic nursing competency that must be addressed in all neonatal nursing facets: education, research and practice.
Fortunately, nursing and other disciplines have developed useful tools, best practices and some evidence based findings to apply to knowledge development in biobanking ethics issues. Research findings in best methods for obtaining informed consent in the NICU or from parents of children have been reported.21 Additionally, there has been study regarding how to facilitate better patient understanding of informed consent.22 There have been best practice standards recommended in biobank consent protocol that appear ready for scientific testing in clinical settings where biobank consent will be processed.23 Scales are accessible for measuring nurses' perceptions of conflicts of interest or distress related to genetic ethical issues: Moral Distress and Ethical Issues Scales.24
Families participate in genetic advocacy by fundraising, education of themselves, informing others of their position on genetic issues, participating or developing genetic research registries and disease specific biobanks or act as decision makers in genetic research funding awards. 25-29 Other cited advocacy methods are: voting on particular referenda, attending and testifying at public hearings, or participating in policy surveys, focus groups and consensus conferences. 30 This genetic advocacy is distinguishable from previous patient support group activities. Patient support groups historically focused on internal support among members and contributed funds were sent to support research agendas set by external decision-makers. The genetic advocacy referred to in this article differs because of the collective actions of these involved families that are intended to directly stimulate or change scientific and political agendas and public perceptions about living with a genetic condition. Genetic advocacy features partnerships of shared decision making between leadership within the advocacy group and external scientific or political leadership. 25, 26, 28, 29, 31-33 Family genetic advocacy is reported as a significant influence on the current trend toward expansion of conditions included in newborn screening.34
Nursing research has recognized the need to increase parental self-perceived competency to cope and parent a child with a disabling rare condition. 35 The genetic advocacy group empowerment activities appear to be worthy candidates for future nursing research testing for improved and increased self efficacy, empowerment, and competency in coping with challenges in parenting newborns with rare genetic conditions.
Disease specific genetic biobank participation can be an expression of genetic advocacy, when a family chooses to contribute DNA to a biorepository designed to benefit, managed, and funded by the genetic advocacy community with which the family self identifies. The advocacy communities are comprised of affected individuals, their extended families, and friends. Many of these genetic advocacy communities are resourced by the Genetic Alliance, a recently formed organization that provides resources and direction for extending their influence beyond mutual support within their own membership. The Alliance shares exemplary organizational and research models for advocates to exert their influence on scientific, political and social policy agendas.25, 29 For example, the Alliance has developed a biobank co-op model, where the patient driven genetic advocacy groups can maintain their own disease specific biobanks. 27 Genetic competence is exercised when the infant's nurse is informed of potential referrals to patient support and genetic advocacy groups that can provide parents a way to participate in the research and health policy agendas in which they are stakeholders. The genetic advocacy driven registry or biobank empowers the genetic advocates themselves to make the decisions of how records or samples will be accessed and used. Being informed and prepared to explain choices a parent has in which to trust their child's DNA derived identity and genetic information is part of nursing genetic competence. Parents of newborns, healthy or affected or at risk for rare genetic conditions have choices whether to participate in PBG biobanks. If not inclined to do so, the genetic advocacy driven registries and biobanks have different characteristics that may better conform to the parent's needs, motivations and willingness to trust future use of their infant's DNA.
Proficient nursing care for neonates includes anticipating and meeting future demands of genetic competency. Three strategies where emerging issues presently call for neonatal nursing genetic competency development are: increased power and significance of neonatal family health histories, population genetic biobanking, and newborns' family genetic advocacy. Neonatal nurses in their advocate, educator, and leadership roles can develop or maintain genetic competency in newborns care by targeting:
  • Collaborative efforts between nurse and family regarding neonatal family health history preparation and understanding of its genetic implications.
  • Referrals to and partnerships with genetic advocacy groups in programs and leadership that empowers neonate's families.
  • Methods to assure privacy and protection of present infants' genetic information while also serving the interests of future infants that may derive benefit of scientific use of the present infant's DNA.
  • Support and collaboration with parents who will be making biobanking decisions regarding their child's DNA becoming part of population based and/or genetic advocacy biobanks.
Genetic and genomic public health strategies frame areas where it is imperative for neonatal nursing to investigate best practice for future and present newborn population's outcomes.
Acknowledgement
The author would like to acknowledge the neonatal clinical perspectives and collaboration of her colleagues: Lauren Thorngate RN, MS, CCRN and Chantel A.E.V. Rios, RNC, BSN
Funding Source: National Institute of Nursing Research: Biobehavioral Nursing Research Training Program, T32 NR07106
Footnotes
This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
Work was completed at the University of Washington, School of Nursing and Public Health Genetics Program, Seattle, WA
1. Jenkins J, Calzone K. Establishing the Essential Nursing Competencies for Genetics and Genomics. Journal of Nursing Scholarship. 2007 First Quarter;39(1):10–13. 2007. [PubMed]
2. Dolan S, Biermann J, Damus K. Genomics for Health in Preconception and Prenatal Periods. Journal of Nursing Scholarship. 2007 First Quarter;39(1):4–9. 2007. [PubMed]
3. Kenner C, Moran M. Newborn Screening and Genetic Testing. Journal of Midwifery & Women's Health. 2005;50(3):219–226.
4. Foley S. Infant asthma: genetic predisposition and environmental infuences. Newborn and infant nursing reviews. 2002 December;:200–206.
5. Rich EC, Burke W, Heaton CJ, et al. Reconsidering the family history in primary care. Journal of General Internal Medicine. 2004 Mar;19(3):273–280. [PMC free article] [PubMed]
6. Crouch MA, Thiedke CC. Documentation of family health history in the outpatient medical record. Journal of Family Practice. 1986;22:169–174. [PubMed]
7. Guttmacher A, Collins F, Carmona R. The family history- more important than ever. The New England Journal of Medicine. 2004;351(22):2333–2336. [PubMed]
8. US Senate Premature Research Expansion and Education for Mothers who deliver Early Act. 2005 PREEMIE Act, Public Law No: 109-450.
9. US Senate Genomics and Personalized Medicine Act of 2006. 2006 S. 3822.
10. Swede H, Stone CL, Norwood AR. National population-based biobanks for genetic research. Genetics in Medicine. 2007;9(3):111–149.
11. Kelley K, Stone C, Manning A, Swede H. Population-based biobanks and genetics research in Connecticut, Virtual Office of Genomics. http://www.dph.state.ct.us/genomics/documents/biobanks%20policy%20brief.pdf.
12. Norgaard-Pederson B, Hougaard D. Storage policies and use of the Danish newborn screening biobank. Journal of Inherited Metabolic Disease. 2007 September 1; 2007.
13. Jeffers B. Human Biological Materials in Research: Ethical Issues and the Role of Stewardship in Minimizing Research Risks. Advances in Nursing Science. 2001;24(2):32–46. [PubMed]
14. Cassells JM, Jenkins J, Lea DH, Calzone K, Johnson E. An ethical assessment framework for addressing global genetic issues in clinical practice. Oncology Nursing Forum. 2003;30(3):383–387. [PubMed]
15. Kaiser J. Genetics. U.S. hospital launches large biobank of children's DNA. Science. 2006;312(5780):1584–1585. [PubMed]
16. Godard B, Schmidtke J, Cassiman J, Ayme S. Data Storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective. European Journal of Human Genetics. 2003;11(Supp 2):S88–S122. [PubMed]
17. Meslin EM, Quaid KA. Ethical issues in the collection, storage, and research use of human biological materials. Journal of Laboratory & Clinical Medicine. 2004 Nov;144(5):229–234. discussion 226. [PubMed]
18. Roche PA, Annas GJ. DNA testing, banking, and genetic privacy. New England Journal of Medicine. 2006 Aug 10;355(6):545–546. [PubMed]
19. Sanner J, Frazier L. Factors that Influence Characteristics of Genetic Biobanks. Journal of Nursing Scholarship. 2007 First Quarter;39(1):25–29. [PubMed]
20. Williams J, Skirton H, Masny A. Ethics, Policy, and Educational Issues in Genetic Testing. Journal of Nursing Scholarship. 2006;38(2):119–124. [PubMed]
21. Golec L, Gibbins S, Dunn M, Hebert P. Informed consent in the NICU setting: an ethically optimal model for research solicitation. Journal of Perinatology. 2004 December;24(12):783–791. [PubMed]
22. Flory J, Emanuel E. Interventions to Improve Research Participants' Understanding in Informed Consent for Research: A Systematic Review. JAMA. 2004 October 6;292(13):1593–1601. 2004. [PubMed]
23. Eiseman E, Bloom G, Brower J, Clancy N, Olmsted S. Case studies of existing human tissue repositories. RAND Corporation; Santa Monica, Ca: 2003.
24. Redman BK. Review of measurement instruments in clinical and research ethics, 1999-2003. J Med Ethics. 2006 March 1;32(3):153–156. 2006. [PMC free article] [PubMed]
25. Cody J. Creating partnerships and improving health care: The role of genetic advocacy groups. Genetics in Medicine. 2006 December;8(12):797–799. [PubMed]
26. Marcus A. Patients With Rare Diseases Work to Jump-Start Research. The Wall Street Journal. 2006 July 11;:D1,D3. [PubMed]
27. Terry S. Genetic Alliance BioBank Executive Summary. Website. Available at: http://www.biobank.org/default.asp. Accessed March 1, 2007.
28. Terry S, Boyd C. Researching the biology of PXE: Partnering in the process. American Journal of Medical Genetics. 2001;106:17–184.
29. Terry S, Terry P, Rauen K, Uitto J, Bercovitch L. Advocacy groups as research organizations: the PXE International example. Nature Reviews. 2007 February;8:157–164.
30. Gollust SE, Apse K, Fuller BP, Miller PS, Biesecker BB. Community involvement in developing policies for genetic testing: Assessing the interests and experiences of individuals affected by genetic conditions. American Journal of Public Health. 2005;95(1):35–41. [PubMed]
31. Editorial The advocates. Nat Genet. 2006 April;38(4):391–391. [PubMed]
32. Lin A, Terry S, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. American Journal of Medical Genetics. 2003;119A:89–92. [PubMed]
33. Rabeharisoa V. The struggle against neuromuscular diseases in France and the emergence of the “partnership model” of patient organisation. Social Science & Medicine. 2003;57:2127–2136. [PubMed]
34. Botkin J, Clayton E. Newborn screening technology: proceed with caution. Pediatrics. 2006;117(5):1793–1799. [PubMed]
35. Dellve L, Samuelsson L, Tallborn A, Fasth A, Hallberg LRM. Stress and well-being among parents of children with rare diseases: a prospective intervention study. Journal of Advanced Nursing. 2006;53(4):392–402. [PubMed]
36. US Senate Rare Diseases Act of 2002. 2002 Public Law No: 107-280.
37. Howell RR. Advisory Committee of Heritable Disorders and Genetic Diseases in Newborns and Children; Paper presented at: Secretary's Advisory Committee on Genetics, Health, and Society Meeting; Bethesda, Maryland. February 28, 2005.
38. Calzone KA, Jenkins J. Preparing nurses for the future. Where do you fit into the implementation plans for essential genetics and genomics nursing competency. Nursing Outlook. 2007;55(2):114.
39. Little People of America Inc Position Statement on genetic discoveries in dwarfism. 1996
40. Johnson C. The Canadian Down Syndrome Society (CDSS) Public Health Agency of Canada, Canadian Congential Anomalies Surveillance Network: Current topic Down Syndrome. 2003