Potential ethical, legal and social (ELSI) conflicts

The swift and constant feed of new evidence from scientific discoveries related to the human genome makes translation and incorporation of information into the clinical setting problematic and generates potential ethical, legal, and social challenges for clinicians.25 Ethical and legal fundamentals provide a framework for comprehending the appropriate integration of genomic information and its translation into healthcare practice.30 Primary care providers have a professional responsibility to ensure fairness and equity to patients, families, and communities amid rapidly emerging technology.25 

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The necessity for clinician education and competency of racial differences has been established and developed in the US.31 However, even with these accepted and approved competencies, education and resources are still in development and are confronted by an endless stream of new genomic information.29 Familiarity of emerging racial genomic science affects practice as well as information about emerging ethical, legal, and social issues—including but not limited to confidentiality, decision-making capacity, informed consent, genetic testing, and research—are necessary to ensure the delivery of appropriate and equitable health care.25

When applying ethical principles to the role of race in genomics, autonomy supports both the providing of information to an individual and the individual’s right to remain uninformed. The ethical principal justice argues that individuals should be treated alike without consideration of their gender, age, ethnicity, health, or socioeconomic status. This includes access to care and participation in research.25 From an ethical perspective, the best solutions are those that least impinge on the values of those involved in the ethical discourse.31

Potential cost implications

Since the human genome was unraveled a decade ago, research regarding the role of race in genetics has advanced at a rapid speed.32 During the past decade, two influential scientific movements in the US, population genetics and health disparities research, have re-ignited a debate on the multifaceted relationships between genes, race, and disease.33 Ten years ago, genetic tests were available for about 900 diseases. Today, that number is over 2,500. And what was once considered a costly procedure that could only be administered in a medical setting can now cost as little as $100 for a DNA test that can be taken at home.32

The cost of genetic testing can range from less than $100 to more than $2,000 per test, contingent on the nature and complexity of the test.34 For newborn screening, costs vary by state. Some states cover part of the total cost, but most charge a fee of $15 to $60 per infant.34 In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a healthcare provider.35 

Unnecessary medical care is estimated to cost the US between $750 billion and $1 trillion dollars a year, and accounts for nearly a third of the overall spending on health care.36 According to a study from the University of Michigan, unnecessary testing can waste up to half a billion dollars each year.36 Researchers found it important for clinicians to have conversations with patients about the pros and cons of tests and forgo the tests that do not offer any clinical benefit.36 

It can be argued that performing a genetic test is not going to change therapy and could lead to anxiety, unclear results, and more testing.36 Additionally, some races that are not privileged and classified as poor or with low-socioeconomic status are affected because they cannot afford the cost for testing and screening, leading to health disparities in such communities. Assessing the health benefits and return on investment of screening has its challenges, given the diversity of conditions and their varying outcomes. Overall, screening and treating disabling genetic conditions can reduce healthcare costs.26

Application of legal/governmental/regulatory issues

As science of the role of race in genomics progresses, genetic testing is becoming more ordinary in the everyday clinic.37 However, most genetic tests are not regulated, meaning there are no independent analyses to authenticate claims of the seller.37 The FDA has the authority to regulate genetic tests, but so far has only regulated a relatively small number of genetic tests sold to laboratories as kits.38 Whereas the Centers for Medicare and Medicaid Services (CMS) does regulate clinical laboratories, it does not examine whether the tests performed are clinically meaningful. Compared to the FDA and CMS, the Federal Trade Commission’s (FTC) regulatory authority is relatively narrow and is limited to how tests are advertised. The FTC has authority to regulate advertising that delivers health-related information to consumers to ensure it is not false or misleading.38 Prior to clinicians ordering, screening, and testing patients, legal and regulatory authorities must approve the tests for validation and clinical use. 

Implications for clinical practice, race, and genetic competency

All clinicians, despite location or practice setting, need to be properly trained in genetics and genomics to provide best practices for prevention, recognition, and/or treatment of diseases.27 For at risk populations and specific prevalent races to benefit from widespread genetic discoveries, clinicians must be proficient in obtaining comprehensive family histories, identifying family members at risk for developing a genomic influenced condition and for genomic-influenced drug reactions, helping people make informed decisions about and understand the results of their genetic/genomic tests and therapies, and referring at-risk people to appropriate healthcare professionals and agencies for specialized care.39 

The incorporation of the role of race in genetics information into all aspects of health care provides the tools to treat patients as truly unique individuals and implement novel screening, diagnostic, and therapeutic interventions all aimed at improving population health.27 The gap concerning genetics in clinical care, and what the primary care community is prepared to provide, grows larger every day.27 With increasing development of practice guidelines, commercially available tests, insurance coverage, and legislative protection, race in genetic testing are moving into the mainstream healthcare setting.39 

Race is a potential indicator for those at risk for or protected from a disease, as well as for different treatment responses.40 As technology continues to improve, the ability to identify and interpret an individual’s combination of genetic variations associated with health outcomes will also improve.40 This will require appropriate use of new scientific knowledge and a continued emphasis on caring for each patient as an individual.31 

The interpretation of the role of race in genetics, in a sensitive and appropriate manner, requires precise awareness of all the manipulating factors affecting healthcare outcomes including genetics and the socioeconomic, lifestyle, and environmental influences that affect disease occurrence and treatment decisions.38 The need for a genetically competent workforce that can lead and assure primary care’s ongoing participation in translation of genomic discoveries into everyday health care is not limited to the US.4

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Implications for future practice

To successfully implement the role of race in genetics, clinicians must be competent in clinical practice implications of race and genetics. Understanding how race plays a vital role in genetics helps clinicians understand the need for early identification for treatment. This significantly reduces morbidity and mortality in at-risk populations and communities.23 By understanding race, genetics, and the importance of early genetic screening, primary care providers can help lower the disability-related healthcare costs in the US41 resulting in an improvement noted in disease management and quality of life in those who undergo early testing vs those tested at a later age. 

Olubanke M. Babalola, MSN, APRN, FNP-C, RRT; Ashley K. Hughes, MSN, APRN, FNP-C; Jessica L. Peck, DNP, RN, CPNP-PC, CNE, CNL, FAANP; and Christina L. Murphey, PhD, RNC-OB, are affiliated with Texas A&M University Corpus Christi.


  1. Rich M. Genetics and the unsettled past: the collision of DNA, race, and history; race and the Genetic Revolution: science, myth, and culture. N Genet Soc. 2015;35:4.
  2. Howard J. What scientists mean when they say ‘race’ is not genetic. 2016. Retrieved from http://www.huffingtonpost.com/entry/race-is-not-biological_us_56b8db83e4b04f9b57da89ed
  3. Krimsky S, Sloan K. Race and the genetic revolution: Science, myth, and culture. 2011. doi: 10.7312/columbia/9780231156974.001.0001
  4. Hunt L, Truesdell N, Kreiner M. Genes, race and culture in clinical care. Med Anthropol Q. 2013;27:253-271. doi: 10.1111/maq.12026
  5. Mersha T, Abebe T. Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities. Hum Genomics. 2015;9:1. doi: 10.1186/s40246-014-0023-x
  6. Lynch J, Whatley A, Uchend U, Ibrahim S. Race and genomics in the Veteran Health Administration. Am J Public Health. 2014;4(Suppl 4):S522-S524.. doi: 10.2105/AJPH.2014.302202
  7. National Institutes of Health (NIH). 2017a. Why are some genetic conditions more common in particular ethnic groups? Retrieved from https://ghr.nlm.nih.gov/primer/inheritance/ethnicgroup
  8. National Institutes of Health (NIH). 2017b. What is a gene mutation and how do mutation occur? Retrieved from https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
  9. Wade N. What science says about race and genetics? 2014. Retrieved from http://time.com/91081/what-science-says-about-race-and-genetics/
  10. Hoglund J. World population by ethnicity and race. 2016. Retrieved from http://www.aryanwisdom.com/tradition/race/data/world-population-by-ethnicity-and-race/
  11. Kaiser Family Foundation. 2017. Population distribution by race/ethnicity. Retrieved from http://kff.org/other/state-indicator/distribution-by-raceethnicity/currentTimeframe=0&sortModel=%7B%22colId%22:%22Location%22,%22sort%22:%22asc%22%7D
  12. Centers for Disease Control and Prevention (CDC). 2016a. Sickle cell disease (SCD) data and statistics. Retrieved from https://www.cdc.gov/ncbddd/sicklecell/data.html
  13. Centers for Disease Control and Prevention (CDC). 2015. Facts about birth defects. Retrieved from https://www.cdc.gov/ncbddd/birthdefects/facts.html
  14. Hussein N, Weng S, Kai J, Kleijnen J, Qureshi N. Preconception risk assessment for thalassemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Cochrane Database Syst Rev. 2015;12. doi: 10.1002/14651858.CD010849.pub2.
  15. Centers for Disease Control and Prevention (CDC). 2017. Sickle cell trait. Retrieved from https://www.cdc.gov/ncbddd/sicklecell/traits.html
  16. World Health Organization (WHO). 2017b. Genes and human disease. Retrieved from http://www.who.int/genomics/public/geneticdiseases/en/index2.html
  17. Mondal S, Mandal S. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci. 2016;10:105-110. doi: 10.4103/0973-6247.175424
  18. Centers for Disease Control and Prevention (CDC). 2016b. Thalassemia. Retrieved from https://www.cdc.gov/features/international-thalassemia/
  19. Genetics and Nutrition. 2017. The impact of genetic information on the family. Retrieved from http://www.nchpeg.org/nutrition/index.php?option=com_content&view=article&id=431&Itemid=563
  20. World Health Organization (WHO). 2017a. Economic implications of genomics. Retrieved from http://www.who.int/genomics/policy/affordability/en/
  21. National Institutes of Health (NIH). 2017c. What are the different ways in which a genetic condition can be inherited? Retrieved from https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
  22. Kelly N, Chehayeb Makarem D, Wasserstein M. Screening of newborns for disorders with high benefit risk ratios should be mandatory. J Law Med Ethics. 2016;44:231-240. doi: 10.1177/1073110516654133
  23. Centers for Disease Control and Prevention (CDC). 2012. CDC Grand rounds: Newborn screening and improved outcomes. Retrieved from https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm
  24. Texas Department of State Health Services. 2017. All Texas newborns are screened for these disorders. Retrieved from http://dshs.texas.gov/newborn/screened_disorders.shtm
  25. Badzek L, Henaghan M, Turner M, Monsen R. Ethical, legal, and social issues in the translation of genomics into health fare. J Nurs Scholarsh. 2013;45:15-24. doi:10.1111/jnu.12000
  26. Pitt J. Newborn screening. Clin Biochem Rev. 2010;31:57-68.
  27. Calzone K, Cashion A, Feetham S, et al. Nurses transforming health care using genetics and genomics. Nurs Outlook. 2010;58:26-35. doi: http://doi.org/10.1016/j.outlook.2009.05.00
  28. Jimenez-Sanchez G. Genomics innovation: transforming healthcare, business, and the global economy. Genome. 2015;58:511-517. doi: dx.doi.org/10.1139/gen-2015-0121
  29. Kirk M, Calzone K, Arimori N, Tonkin E. Genetics-genomics competencies and nursing regulation. J Nurs Scholarsh. 2011;43:107-116. doi: 10.1111/j.1547-5069.2011.01388.x
  30. Burgess MM. Beyond consent: ethical and social issues in genetic testing. Nat Rev Genet. 2001;2:147-151. doi:10.1038/35052579
  31. Andrews V, Tonkin E, Lancastle D, Kirk M. Using the Diffusion of Innovations theory to understand the uptake of genetics in nursing practice: identifying the characteristics of genetic nurse adopters. J Adv Nurs. 2014;70:878-893. doi:10.1111/jan.12255
  32. Scarantino D. Is genetic testing worth the money? 2013. Retrieved from http://www.foxbusiness.com/features/2013/06/14/is-genetic-testing-worth-money.html
  33. Fine M, Ibrahim S, Thomas S. The role of race and genetics in health disparities research. Am J Public Health. 2005;95:2125-2128. doi: http://doi.org/10.2105/AJPH.2005.076588
  34. National Institutes of Health (NIH). 2017d. What are the benefits of genetic testing? Retrieved from https://ghr.nlm.nih.gov/primer/testing/benefits
  35. Impact. (n.d.). Positive and negative aspects of genetic testing. Retrieved from http://www.impactstudy.co.uk/public/geneticsandcancer/genetictesting/positiveandnegativeaspects
  36. Ross C. Genetic test costs taxpayers $500 million a year, with little to show for it. 2016. Retrieved from https://www.statnews.com/2016/11/02/genetic-test-medical-costs/
  37. National Institutes of Health (NIH). 2016. Regulation of genetic tests. Retrieved from https://www.genome.gov/10002335/regulation-of-genetic-tests/
  38. Genetic Alliance. (n.d.). Genetic testing. Retrieved from http://www.geneticalliance.org/advocacy/policyissues/genetictesting
  39. Thompson H, Brooks M. Genetics and genomics in nursing: evaluating Essentials implementation. Nurse Educ Today. 2011;31:623-627. doi: http://doi.org/10.1016/j.nedt.2010.10.023
  40. Djurdjinovic L, Peters JA. Special issue introduction: dealing with psychological and social complexity in genetic counseling. J Genet Couns. 2017;26:195-198. doi: 10.1007/s10897-017-0080-0
  41. March of Dimes. Newborn screening saves lives and money. 2014. Retrieved from http://www.marchofdimes.org/Issue-Brief-newborn-screening-november-2014.pdf