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Newborn Blood-spot Screening and Research

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The Ethics of Consent

Public, Parental, and Clinical Attitudes about NBS
Storage and Residual Use of Newborn Blood Spots
Advanced Technology and NBS
References

 

Background
Newborn Dried Blood Spot Screening (NBS) is a public health service that screens newborns for specific disorders.  Originally designed by Robert Guthrie in 1963 to test for phenylketonuria, NBS now screens from 6 to 50 different metabolic, genetic, and endocrine disorders.  Blood samples are obtained from a heel-stick during the first few days after birth and sent (typically) to the state health department to be analyzed.  If the results are abnormal, the primary care physician is notified and further tests are recommended.  The testing, storage, and use of NBS (and information associated with each sample) are topics of great interest and relevance in bioethics today.  Specifically, four main issues are trending in academic literature: the ethics of consent, public/clinical attitudes toward NBS, rules governing the retention and future use of blood specimens, and the ethical issues of advanced genomic testing.  Below you will find key references which discuss these issues.

For introductory resources to Newborn Dried Blood Spot Screening, please see the links below:

  • The Annual Review of Nursing Research published an article that details the history, evolution and modern ethical issues surrounding NBS.  Specifically, it focuses on the accuracy of results and paternal education.
  • In 2004 International and Comparative Health Law and Ethics published a review detailing the potential uses, associated ethical dilemmas, and recommended guidelines for NBS.
  • The Baby's First Test website provides a number of helpful resources regarding NBS as well as state-by-state information on what is tested.

Main Issues

The Ethics of Consent

Some believe that parents are entitled to information regarding the procedure and potential use of their child’s NBS.  With few exceptions, however, states do not require parents’ permission to perform NBS.   Moreover, many state health departments do not obtain consent before storing and using the NBS for further research.  This raises the question: should researchers and biobanks acquire parental consent for the use of a child’s NBS in research?

Multiple studies have been done to ascertain the public’s perspective on this issue. Goldenberg et al. (2009) interviewed 1186 patients from 5 academic medical centers to examine adults’ attitudes toward continued research with their own pediatric samples.  Patients were presented with hypothetical scenarios with emphasis placed on the inability to obtain consent as an adult.  They found that patients were willing to accept use of samples if no consent could be obtained, but still preferred to be asked for their consent. Miller et al. (2010) conducted a mixed methods study to evaluate health care providers’ attitudes toward consent for NBS.  After conducting 1,615 surveys and 36 unstructured interviews, they discovered that most health care providers do not support explicit consent for NBS. Tarini et al. (2009) examined parental willingness to permit NBS sample storage and research without their consent. If there were a consent process in place, 76.2% of parents were very or somewhat willing to permit use of NBS for research. If there was not a consent process in place, only 28.2% of parents would be very or somewhat willing to permit use of NBS for research.

In addition to studies, multiple researchers have published their viewpoint on the issue. Ross (2010) argues that seeking parental consent for NBS must be mandatory, but recommends different consent models depending on the risk-to-benefit ratio of the conditions being tested for, as well as a separate consent model for seeking permission for using NBS for research purposes. Hargeaves et al. (2005) argue that neither a formal consent process nor extensive education is necessary to satisfy the ethical tensions in the issue of NBS. They recommend brief yet effective communication about NBS between parent and provider to facilitate the parent’s informed choice. Tarini et al. (2008) argues for waiving informed consent in population-based NBS research.  Evaluating the efficacy of new tests to be included in future NBS requires research.  Under strict interpretation of informed-consent guidelines, such population-based research would be too difficult to complete.

For more information and to see each of these studies, please continue down to the References section.


Public, Parental, and Clinical Attitudes about NBS

Although most states are required to provide parents with educational information about NBS, much of the population remains under or uninformed.  Both parents and healthcare providers have expressed dissatisfaction with NBS education to researchers, and both support increased efforts to educate parents about NBS.  Any assessment of the ethics NBS or use of NBS for research must include evaluations of public attitudes.

Botkin et al. (2012) evaluated public opinion about policies and practices related to newborn screening, and the retention and use of blood spots for future research.  Of the 3855 volunteers, some were made to watch a 22-minute movie about retention and use of residual specimens, while others were given written information about.  All participants completed a 38-question survey.  Most subjects supported NBS and residual sample research, but with a preference for explicit consent.  Greater education was associated with higher support. Dunn et al. (2012) administered surveys and phone interviews to 10 county medical directors overseeing NBS in the state of Florida.  The questions assessed basic knowledge of NBS, views on health care provider and parental access to NBS information, and recommendations for improvement.  The results revealed an overall dissatisfaction from providers concerning NBS care, policy and education. Hasegawa et al. (2011) assessed parental knowledge of NBS, attitudes toward NBS for untreatable conditions, NBS for late-onset disorders and informed consent in NBS.

In more recent work, Rothwell et al. (2017) explored the effects of providing information on NBS to fathers of newborns, finding their education tools regarding the practice were “…associated with significantly increased knowledge, support, and satisfaction for both NBS and research use of DBS and an opt-out consent approach for DBS among fathers,” (Rothwell et al, 2017). Botkin et al (2014) conducted a series of 11 focus groups across four states to better understand the types of information parents would want regarding NBS and subsequent research involving NBS. The study ultimately yielded seven categories of information on which parents’ would be interested in receiving information: storage, potential uses, risks and burdens, safeguards, anonymity, return of results, and parental choice. A study by Botkin et al (2016) focused on the best way of educating parents of newborns on NBS, providing parents of newborns with information on NBS and then following up with them shortly after with a survey testing their knowledge of the information they were given and assessing their attitudes regarding NBS. Similarly, a study by Rothwell et al (2016) focused on the effects of providing expecting mothers with information on NBS during their pregnancy, with the study finding improved trust and support in NBS and NBS research when information was provided.

For more information and to see each of these studies, please continue down to the References section.


Storage and Residual Use of Newborn Blood Spots

After collection, the newborn blood spot (NBS) samples are sent to the state’s health department for testing, retained for varying lengths of time, and, in some cases, used for research purposes. Traditionally, state health departments have stored NBS for confirmatory diagnosis and quality assurance testing.  Recently, researchers in the state health departments and associated research partners (at universities or private companies) have become interested in banking NBS for research on disease development and gene-environment interactions.

Botkin et al. (2013) provide guidance for state policy-makers regarding the management of residual specimens used for research. Goldberg’s (2009) dissertation contains a comprehensive discussion of NBS banking related issues and provides charts summarizing portions of his research. Goldenberg found that fifteen states contain language authorizing retention and research use of NBS. Only twelve states contain some language in parent educational materials pertaining to use of NBS following screening. Just four states fully address the issue to include information that tells parents their child’s sample will be retained, explain privacy concerns, and provide parents a choice relating to the sample disposition. In 2011 the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborn Children published its recommendations for use of residual newborn screening specimens.

More recently, this topic has come up in the news as Texas, Minnesota, and Indiana have each fielded cases regarding the storage of NBS in biobanks. Cases in Texas and Minnesota led to each state destroying their biobanks and records of NBS that had been obtained without consent. Following these, Bayefsky, Saylor, and Berkman (2014) wrote a perspective on a 2014 decision classifying research on NBS as human subjects research, attacking the position and explaining th dangers of this type of precedent. Additionally, Botkin et al (2014) published an ethical and legal framework regarding parental permission of NBS and NBS research.

For more information and to see each of these studies, please continue down to the References section.


NBS and Advanced Technology

Advances in medical technology have broadened the scope of NBS to include tests for conditions which have little or no effective therapy.  This raises some interesting questions: should NBS tests be restricted to those that have well-evidenced clinical efficacy, or do we need to broaden the definition of value to include non-therapeutic benefit? 

Potter et al. (2007) hosted a Canadian workshop in 2007 to discuss ethical, legal and social issues associated with genetic screening and NBS.  It is a good starting point that highlights key ethical issues in the debate. Tarini and Goldenberg (2012) discuss the “therapeutic gap” created by screening without effective treatment.  They postulate that the imminence of whole genome sequencing is likely to worsen the already pressing ethical issues faced by the NBS community. The article presents clear and detailed criticisms of current NBS programs. Etchegary et al. (2012) conducted a survey in 2010 designed to measure attitudes toward newborn genetic testing.  Their findings reveal a desire for expanding NBS for with or without effective treatment with special attention paid to parental consent. Hayeems et al. (2013) used eight focus groups to measure Canadian public opinion about which specific disorders should be included in NBS programs, and the scope of parental consent in relation to expanded screening.

In more recent work, Nowogrozdki (2015) explored some of the popular arguments regarding another new frontier in NBS: Genome sequencing. Bombard et al. (2014) conducted a study in Canada exploring parents’ perspectives on whether genome sequencing would change their attitudes toward participating in NBS, with the study finding that including genome sequencing in NBS would make parents less likely to participate.

For more information and to see each of these studies, please continue down to the References section.


References

Background

Anderson R, Rothwell E, Botkin JR. Newborn screening: ethical, legal, and social implications. Annu Rev Nurs Res. 2011;29:113-32. Review. PubMed PMID: 22891501.

Kharaboyan L, Avard D, Knoppers BM. Storing newborn blood spots: modern controversies. J Law Med Ethics. 2004 Winter;32(4):741-8. PubMed PMID: 15807362.

http://babysfirsttest.org/

The Ethics of Consent

Aaron J. Goldenberg, Sara Chandros Hull, Jeffrey R. Botkin, Benjamin S. Wilfond, Pediatric Biobanks: Approaching Informed Consent for Continuing Research After Children Grow Up, The Journal of Pediatrics, Volume 155, Issue 4, October 2009, Pages 578-583.e13, ISSN 0022-3476, 10.1016/j.jpeds.2009.04.034.

Miller FA, Hayeems RZ, Carroll JC, Wilson B, Little J, Allanson J, Bytautas JP, Paynter M, Christensen R, Chaktraborty P. Consent for newborn screening: the attitudes of health care providers. Public Health Genomics. 2010;13(3):181-90. doi: 10.1159/000240966. Epub 2009 Sep 22. PubMed PMID: 19776551..

Tarini BA, Goldenberg A, Singer D, Clark SJ, Butchart A, Davis MM. Not without my Permission: Parents' Willingness to Permit Use of Newborn Screening Samples for Research. Public Health Genomics. 2009 Jul 11. PubMed PMID: 19602864.

Lainie Friedman Ross. "Mandatory versus Voluntary Consent for Newborn Screening?" Kennedy Institute of Ethics Journal 20, no. 4 (2010): 299-328.

Hargreaves, K. M., Stewart, R. J. and Oliver, S. R. (2005), Informed choice and public health screening for children: the case of blood spot screening. Health Expectations, 8: 161–171. doi: 10.1111/j.1369-7625.2005.00324.x

Tarini BA, Burke W, Scott CR, Wilfond BS. Waiving informed consent in newborn screening research: balancing social value and respect. Am J Med Genet C Semin Med Genet. 2008 Feb 15;148C(1):23-30. doi: 10.1002/ajmg.c.30164. PubMed PMID: 18200521.

Public, Parental, and Clinical Attitudes about NBS

Botkin JR, Rothwell E, Anderson R, Stark L, Goldenberg A, Lewis M, Burbank M, Wong B. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics. 2012 Feb;129(2):231-8. doi: 10.1542/peds.2011-0970. Epub 2012 Jan 16. PubMed PMID: 22250018; PubMed Central PMCID: PMC3269111.

Dunn L, Gordon K, Sein J, Ross K. Universal newborn screening: knowledge, attitudes, and satisfaction among public health professionals. South Med J. 2012 Apr;105(4):218-22. doi: 10.1097/SMJ.0b013e31824f8220. PubMed PMID: 22475673.

Hasegawa LE, Fergus KA, Ojeda N, Au SM. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics. 2011;14(4-5):298-306. doi: 10.1159/000314644. Epub 2010 Jul 30. PubMed PMID: 20689248; PubMed Central PMCID: PMC3214890.

Rothwell E, Wong B, Anderson RA, Botkin JR. Education for fathers about newborn screening and leftover dried blood spots. Journal of Community Genetics. 2011 July; 8(3):239-241.

Botkin, JR, Rothwell E, Anderson RA, Goldenberg A, Kuppermann M, Dolan SM, Rose NC, Stark L. What parents should know about the storage and use of residual newborn bloodspots. Am J Med Gene. 2014, 164A(11); 2739–2744.

Botkin, JR, Rothwell E, Anderson RA, Rose N, Dolan SM, Kuppermann M, Stark LA, Goldenberg A, Wong B. Prenatal education of parents about newborn screening and residual dried bloodspots. JAMA Pediatr 2016, 170(6); 543–549

Rothwell E, Wong B, Anderson RA, Botkin JR (2016) The influence of education on public trust and consent preferences with residual newborn screening dried blood spots. Journal of Empirical Research on Human Research Ethics 11:231–236

Storage and Residual Use of Newborn Blood Spots

Botkin JR, Goldenberg AJ, Rothwell E, Anderson RA, Lewis MH. Retention and research use of residual newborn screening bloodspots. Pediatrics. 2013 Jan;131(1):120-7. doi: 10.1542/peds.2012-0852. Epub 2012 Dec 3. Review. PubMed PMID: 23209103; PubMed Central PMCID: PMC3529945.

Goldenberg AJ. Ethics at the crossroads of public health and biobanking: the use of Michigan’s residual newborn screening bloodspots for research [dissertation]. [Ohio]: Case Western Reserve University; 2009. 176 p.

Therrell BL Jr, Hannon WH, Bailey DB Jr, Goldman EB, Monaco J, Norgaard-Pedersen B, Terry SF, Johnson A, Howell RR. Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639. PubMed PMID: 21602691.

Fikac P. State to destroy newborns’ blood samples. Houston Chronicle. 2009 Dec. http://www.chron.com/news/houston-texas/article/State-to-destroy-newborns-blood-samples-1599212.php

Olson, J. Minnesota must destroy 1 million newborn blood samples. Star-Tribune. 2014 Jan. http://www.startribune.com/minnesota-must-destroy-1-million-newborn-blood-samples/239952831/

Bayefsky MJ, Saylor KW, Berkman BE. Parental consent for the use of residual newborn screening bloodspots: respecting individual liberty vs ensuring public health. JAMA. 2015; 314(1):21-22. doi:10.1001/jama.2015.6175

Botkin JR, Huckaby ML, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond, B, on behalf of the Bioethics and Legal Work Group of the Newborn Screening Translational Research Network. Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN. Pediatrics. 2014 Feb; 133(2)

NBS and Advanced Technology

Potter BK, Avard D, Entwistle V, Kennedy C, Chakraborty P, McGuire M, Wilson BJ. Ethical, legal, and social issues in health technology assessment for prenatal/preconceptional and newborn screening: a workshop report. Public Health Genomics. 2009;12(1):4-10. doi: 10.1159/000153430. Epub 2008 Sep 3. PubMed PMID: 19023190; PubMed Central PMCID: PMC2790790.

Tarini BA, Goldenberg AJ. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381-93. doi: 10.1146/annurev-genom-090711-163741. Epub 2012 May 1. Review. PubMed PMID: 22559326.

Etchegary H, Dicks E, Hodgkinson K, Pullman D, Green J, Parfey P. Public attitudes about genetic testing in the newborn period. J Obstet Gynecol Neonatal Nurs. 2012 Mar;41(2):191-200. doi: 10.1111/j.1552-6909.2012.01341.x. PubMed PMID: 22834846.

Hayeems RZ, Miller FA, Bombard Y, Avard D, Carroll J, Wilson B, Little J, Chakraborty P, Bytautas J, Giguere Y, et al. Expectations and values about expanded newborn screening: a public engagement study. Health Expect. 2013 Feb 1. doi: 10.1111/hex.12047. [Epub ahead of print] PubMed PMID: 23369110.

Nowogrodzki A. Should Babies Have Their Genomes Sequenced? MIT Technology Review. 2015, Jul. (2015). http://www.technologyreview.com/news/538931/should-babies-have-their-genomes-sequenced

Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, et al. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet (2014) 22(11):1248–54. doi:10.1038/ejhg.2014.22

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