Interest in Newborn Genetic Testing: A Survey of Prospective Parents and the General Public

Abstract

Purpose: Newborn screening (NBS) panels continue to expand, yet there are too few data on public attitudes toward testing in the newborn period to indicate whether there is support for such testing. We measured interest in newborn testing for several autosomal recessive disorders and reasons for interest. Methods: A cross-sectional, pen and paper survey was administered to the general public and prospective parents attending prenatal classes in Eastern Canada between April and December, 2010. Results: A total of 648 individuals completed surveys. Interest in newborn testing for inherited hearing loss, vision loss, and neurological disorders was high (over 80% would have their newborn tested). The attitudes of prospective parents and students were positive, but somewhat less so than members of the general public. Across all disorders, interest in testing was driven by the desire to be prepared for the birth of a child with a genetic disorder. Significantly more people would use the information from testing for fatal neurological disorders in future reproductive decisions than the information generated by newborn testing for inherited hearing or vision loss. Conclusion: Interest is high in newborn testing for a variety of conditions, including those for which no effective treatment exists. Findings lend support to the expansion of NBS panels to include those disorders currently lacking treatment and highlight the value of including the views of diverse stakeholders, including prospective parents, in screening policies.

Introduction

Testing for genetic conditions in the newborn period has the potential to improve disease outcomes through targeted surveillance and prevention strategies. Newborn testing is already well established in many countries, including Canada, where regular screening of newborns for conditions where early intervention could reduce morbidity and mortality (e.g., phenylketonuria or PKU) is standard practice (Potter et al., 2009). Virtually every infant in Canada undergoes a heel stick within the first week of life to test for a variety of metabolic, endocrine, and hematological conditions as part of province-run universal newborn screening (NBS) programs, although there is great variety in the number and type of conditions assessed in each province (Canadian Organization for Rare Disorders [CORD], 2010; Wilson et al., 2010). NBS can also include clinical testing (such as hearing checks) and DNA testing. In our province of Newfoundland and Labrador (NL), NBS covers six conditions, including congenital hyperthyroidism, medium-chain acyl-CoA dehydrogenase (MCAD), homocystinuria-cystathionine beta synthase (HYC), phenylketonuria (PKU), tyrosinemia type 1 (TYR-I), and tyrosinemia type II (TYR-II) (CORD, 2010). In addition, there are plans to expand the program in the near future (L. Turner, Provincial Medical Genetics Program, personal communication, February 2011).

Expansion of NBS panels is becoming more likely due in part to newer techniques such as tandem mass spectrometry. Gene identification and the development of genetic tests for disease determination will also potentially increase the number of conditions ascertained in the newborn period. However, even as the push for the expansion of NBS panels continues, the benefits and harms of screening for additional rare disorders (whether by DNA, biochemical, or clinical testing) are less clear. As such, expansion of NBS panels is highly contested and is now the focus of current policy debate (Alexander and van Dyck, 2006; Botkin et al., 2006; Potter et al., 2009; Wilson et al., 2010).

The decision to add or remove conditions from NBS panels is normally based on the advice of experts in medicine, health policy, law, or ethics (Watson et al., 2006); however, the opinion of stakeholders such as prospective and new parents, as well as the general public, remains largely unknown. Optimal utilization of any genetic testing depends on the knowledge and attitudes of the potential consumers of genetic tests and technologies. It is pertinent to ask what women and their partners know about NBS and whether they might have an interest in such tests, not least to assist in the development of appropriate health policies and services.

In our jurisdiction, there is a higher-than-average incidence of some autosomal recessive disorders such as fatal neurological disease, inherited eye diseases, and inherited forms of hearing loss (Rahman et al., 2003). In light of the proposed expansion of the NBS program in this province, and because of the number of known recessive conditions that could be assessed in the newborn period, we undertook a cross-sectional survey to assess public attitudes, in particular those of expecting women and their partners.

Materials and Methods

Sample and procedure

The study received ethical approval from the Human Investigation Committee, Memorial University. Pen and paper surveys were administered in two municipalities, Grand Falls-Windsor (located in Central Newfoundland) and St. John's (Eastern Newfoundland) between April and December, 2010. Participant consent was assumed by the return of a survey.

To access the general public, survey tables were set up at local hospitals (in the main lobbies close to the public cafeteria), shopping malls, and other public locations when possible (e.g., a survey table was set up at a summer public holiday event; surveys were also left at a variety of outpatient clinics in local hospitals with a survey drop box). To access student opinion, survey tables were set up in common student areas at Memorial University in St. John's, NL, and the College of the North Atlantic in Grand Falls-Windsor, NL. All survey tables were manned by study investigators or trained research staff. Tables were set up at various times throughout the day and on various days of the week to enable the most representative sample of respondents. Finally, to recruit expecting parents, study investigators (Holly Etchegary and Elizabeth Dicks) visited prenatal classes run by Central and Eastern Health authorities. At each class, the investigators explained the project and offered the opportunity to complete the survey on site at the end of class. At all survey tables and in prenatal classes, potential participants were also offered the opportunity to complete the survey at home and return it in a prepaid envelope. Very few respondents returned the survey by mail (<5%). In total, the survey was administered at 15 prenatal classes during the data collection period.

Sample size considerations

Six hundred respondents were needed to be confident in our descriptive results (e.g., frequencies of responses) within a four-point margin of error at the 95% confidence interval (sample size calculator: www.surveysystem.com/sscalc.htm). This sample is also sufficient to detect a medium effect size in mean comparisons among groups, for example, the mean attitude score of parents versus nonparents (Cohen, 1992; Tabachnik and Fidell, 2007).

Survey instrument

The survey was pilot tested with a convenience sample of approximately 30 students, staff, faculty, and members of the general public known to the research team. Only minor wording changes were required based on pilot testing data. The survey contained three sections in addition to standard demographic information: (1) attitude toward newborn testing for specific genetic disorders, including inherited hearing loss, eye disease, and neurological disease, as well as reasons for testing; (2) attitude toward newborn genetic testing in general, without specifying particular disorders, as well as an open question regarding whether there were conditions for which newborn testing should never be offered; (3) psychosocial variables chosen from the literature that could affect attitudes toward newborn genetic testing (e.g., opinion about abortion, family history of genetic disorders, self-perceived knowledge about genetic testing, etc.). The final section also contained three open-ended questions about the perceived risks and benefits of testing, and space for respondents to leave additional comments they felt were important. In the current analysis, we explain the survey items and present results from the first section of the survey only; results of other survey components will be reported separately.

Attitude measures

For each of the three disorders, we presented a short paragraph explaining the condition (see Table 1). Following the paragraph, interest in newborn testing for that disorder was measured on a five-point Likert scale (definitely not, probably not, don't know, probably yes, and definitely yes). Respondents were also presented with three possible reasons for choosing to have their newborn tested (e.g., to prepare for any special needs of my child; to help me decide whether or not to have more children; to make decisions about my child's treatment) and to indicate the most important reason. They were also given space to record other reasons.

Table 1.

Explanation of Disorders on the Survey

Disorder	Explanation
Inherited hearing loss	Assume that a genetic test is available that could tell you if your newborn baby would go on to have very reduced hearing in childhood or by the time he or she was a teenager. Hearing loss gradually worsens over childhood, and may lead to total deafness. There is no cure for this hearing loss, but some treatments may be available such as hearing aids or implants. Also, special education for children and support groups for parents may be available.
Inherited eye disease	Now we want your opinion on genetic testing for very reduced vision or blindness. Assume that a genetic test is available that could tell you if your newborn baby would go on to have loss of sight. In this type of eye disease, vision worsens over childhood or the early teens, leading to severe vision loss or blindness. There is no cure for this vision loss, but education, support groups and visual aids are possible.
Inherited neurological disease	Finally, we want your opinion on genetic testing for inherited neurological disease. A neurological disease affects the brain and nervous system. These disorders can cause muscle weakness, paralysis, and problems with talking or feeding oneself. While they are rare, there are severe genetic neurological diseases that affect children. These usually result in early death, often in childhood or in the teenage years. At this time, there is no cure or treatment available, but there are support groups for families.

Respondents were then asked whether newborn genetic testing should be publicly available for these three disorders, regardless of their personal interest. These were measured on the same five-point Likert scale described in the previous paragraph.

Results

Sample characteristics

In total, 1060 surveys were distributed across both sites, and of these, 648 were completed (a crude response rate of 61%). While over 200 prepaid envelopes were distributed with surveys, only ∼20 were returned by mail. The majority of surveys were completed on site, whether at survey tables or in prenatal classes. In the latter, response rate was virtually 100% (only one expecting Dad refused to complete the survey).

Roughly equal numbers of surveys were completed at each site, with the majority (60%) at the larger Eastern site. The majority of respondents were women (74%) and married (69%), while 25% were single. The average age of respondents was 36 years (SD=12.8, range=18-78), and the majority (53%) had no children (22% had two children; 16% had one child, with the remainder having three or more children). The sample was well educated with over a third (33%) having completed a University degree and 33% having completed trade school or college. Slightly fewer than one-fifth had a high school diploma or less (18%). Further classification of respondents is as follows: 21% were students; 24% were faculty and staff of site hospitals or the university/college where survey tables were manned; 22% were members of the general public (e.g., visitors to hospitals, malls, or other public locations or attendees at outpatient clinics); and 33% were expecting parents attending prenatal classes.

Attitude toward newborn genetic testing

Overall, there was a very positive attitude toward newborn genetic testing for inherited hearing loss, eye diseases, and neurological disorders, with 84%, 86%, and 83% of the sample indicating they probably or definitely would have their newborn tested for these disorders (Table 2). Even when respondents would decline testing for their own newborns, they strongly agreed that testing should be available for those parents who wished it, with ∼95% (strongly) agreeing with newborn genetic testing for the three disorders (Table 2).

Table 2.

Respondent Attitude Toward Newborn Genetic Testing (n=648)

Attitude toward testing for own newborn	(Strongly) Agree%	(Strongly) Disagree%
Inherited hearing loss	84	10
Inherited eye disease	86	8
Inherited neurological disorders	83	9

Attitude toward making testing available even if declining for own newborn	(Strongly) Agree%	(Strongly) Disagree%
Inherited hearing loss	95	2
Inherited eye disease	96	2
Inherited neurological disorders	95	2

Totals may not sum to 100% due to rounding or missing data (<1%) or exclusion of Don't Know responses.

Attitudes toward newborn genetic testing by demographic and psychosocial variables

Three regression analyses revealed few demographic and psychosocial variables that were related to attitudes toward newborn testing. Table 3 displays the predictors used in the regression analysis of attitude toward hearing loss; these same predictors were used in two additional regression analyses for eye diseases and neurological disorders. We present the full regression data for hearing loss only, and discuss just those predictors that were significant for inherited eye diseases and neurological disorders.

Table 3.

Regression Analysis of Attitude Toward Newborn Testing for Inherited Hearing Loss

Variable	Standardized β	Standard error	t-value, significance
Respondent category^a	0.037	0.062	0.524, p=0.60
Sex	0.060	0.093	1.46, p=0.15
Education	0.009	0.031	0.204, p=0.84
Marital status	−0.030	0.093	−0.620, p=0.54
Number of children	0.076	0.051	1.38, p=0.17
Pregnant?	0.057	0.163	0.739, p=0.46
Age	0.134	0.004	2.35, p=0.019^b
Abortion^c	−0.055	0.050	−1.31, p=0.19
Religion	0.015	0.060	0.350, p=0.73
History of hearing loss^d	−0.021	0.081	−0.493, p=0.62
History of vision loss	−0.080	0.093	−1.95, p=0.052^b
History of neurological disorders	−0.053	0.076	−1.32, p=0.18
Self-perceived knowledge^e	−0.060	0.050	−1.45, p=15

Respondents were (1) students, (2) faculty and staff of hospitals and university/colleges, (3) general public, or (4) attending prenatal classes.

Significant predictor.

Respondents were asked, “What is your opinion regarding abortion?” Response options: agree with it; agree with it in some situations; disagree with it; undecided on the issue.

Respondents were asked, “Are you or any member of your family or friends deaf or have a serious degree of hearing loss?” Response options: Yes, No, Unsure.

Respondents were asked, “How would you rate your level of knowledge about newborn genetic testing?” Response options: A lot, some, only a little, none at all.

Table 3 shows only two variables related to attitudes toward having one's newborn tested for inherited hearing loss—respondent age and a history of vision loss (either in self or friends/family). Older respondents had a more positive attitude toward testing, while those who indicated that either they or any of their friends and family had a serious degree of vision loss had more positive attitudes toward newborn testing for hearing loss (μ=4.4) than those who responded no (μ=4.1) or were unsure (μ=4). Note, however, that these means are still quite positive. The model explained only 4.7% (adjusted R²) of the variance in attitude toward newborn testing for hearing loss.

Regression analyses of attitudes toward inherited eye and neurological disorders were similar (data not shown). Entering the same predictors as shown in Table 3, more positive attitudes toward newborn testing for inherited eye diseases were related to older age (β=0.178; σ=0.004; t=3.2, p=0.002) and having a history of vision loss in self or in friends and family members (β=−0.141; σ=0.087; t=−3.5, p=0.001). The model explained 7.3% (adjusted R²) of the variance in attitude toward newborn testing for inherited eye diseases.

Both age (β=0.111, σ=0.005; t=1.9, p=0.054) and a history of vision loss (β=−0.094, σ=0.100; t=−2.2, p=0.025) were significant predictors of attitude toward newborn testing for inherited neurological disorders. However, sex and attitude toward abortion were also related to attitudes toward these disorders. Women had more positive attitudes (μ=4.3) than men (μ=4.1; β=0.092; σ=0.100; t=2.2, p=0.027), while those who disagreed with abortion had more negative attitudes (μ=3.9) than those who agreed (μ=4.3; β=−0.087; σ=0.053; t=−2.0, p=0.041). The model explained only 2.9% (adjusted R²) of the variance in attitude toward newborn testing for neurological disorders.

Prospective parents versus public attitudes

Table 4 displays the mean scores for the three attitude items for each respondent category. One-way ANOVAs revealed significant differences in attitude among the four groups of survey respondents. Post hoc Tukey's least significant difference tests revealed that there were no differences in attitude toward newborn testing for hearing loss, eye diseases, or neurological disorders between expecting parents and students. However, attitude toward testing for all three conditions was somewhat lower for expecting parents compared with faculty/staff and members of the general public (see Table 4). Note, however, that attitudes were still positive toward testing.

Table 4.

Means (Standard Deviations) of Attitude Items by Participant Category

Respondent category	Expecting parents (n=213)	Students (n=135)	Faculty/staff (n=155)	General public (n=145)	F, p-value
Inherited hearing loss	3.96 (1.1)	4.02 (1.1)	4.40 (0.86)	4.42 (0.93)	9.7, p<0.001
Tukey's d, p-value		−0.06, p=0.95	−0.44, p<0.001	−0.46, p<0.001
Inherited eye disease	3.96 (1.0)	4.16 (0.90)	4.43 (0.81)	4.37 (0.94)	9.3, p<0.001
Tukey's d, p-value		−0.19, p=0.26	−0.47, p<0.001	−0.41, p<0.001
Inherited neurological disorders	3.99 (1.2)	4.18 (1.1)	4.41 (0.93)	4.37 (0.96)	6.0, p<0.001
Tukey's d, p-value		−0.18, p=0.39	−0.41, p<0.001	−0.38, p<0.05

Reasons for testing

Respondents were shown three possible reasons for choosing to have their newborn tested and asked to endorse any that were relevant and to indicate the most important reason. For all disorders, “to prepare for any special needs of my child” was the most commonly endorsed reason (86%, 86%, and 80% for hearing, vision, and neurological disorders, respectively). The percent of respondents endorsing “to help me decide whether to have more children” was 27%, 28%, and 46%, respectively, for hearing, vision, and neurological disorders, a significant difference in the distribution of responses to these items (related sample Friedman's test, p=0.000). Respondents were more likely to use newborn genetic testing to help them decide whether to have more children if the testing was for fatal neurological disorders than if the testing was for inherited hearing or vision disorders.

Discussion

As NBS panels continue to expand, there are not enough data on prospective parent's attitudes toward genetic testing in the newborn period to indicate whether there is support for such testing. To fill this gap, and in anticipation of the planned expansion of the NBS program in our jurisdiction, we undertook a cross-sectional survey of the public, including prospective parents, to explore interest in newborn genetic testing for several autosomal recessive disorders. We found high levels of support for testing across three disorders: inherited hearing loss, eye diseases, and fatal neurological disorders. Support for such testing was high regardless of whether participants would have their own newborn tested and regardless of whether an effective treatment existed for the disorder in question.

When NBS was first established as a public health activity, Wilson and Junger (1968) proposed 10 guiding principles that largely continue to guide the NBS process today. The criteria focus mainly on the diagnosis and management of screen-positive newborns and require that the disorder for which newborns are screened has an effective treatment and a well-understood natural history. However, continued advances in genomics and medical technology allow for the screening of rare conditions for which information on natural history and effective treatments are severely lacking (Moyer et al., 2008). Proponents of expanded NBS programs argue that Wilson and Junger's original criteria are overly narrow and fail to recognize other benefits of NBS such as avoiding a long diagnostic quest after symptoms appear and providing parents with the opportunity to make informed decisions regarding medical management and educational interventions for their children, as well as the opportunity to participate in new and ongoing research (Alexander and van Dyck, 2006; Moyer et al., 2008).

Participants' strong acceptance of NBS for several different conditions, including fatal neurological disorders, is significant and in line with other studies across the United States and European Union (Brunger et al., 2000; Lipstein et al., 2010; Plass et al., 2010; Hasegawa et al., 2011). Together, these findings suggest that Wilson and Junger's screening principles should be updated to include a broader concept of benefit than medical treatment (Hasegawa et al., 2011) and also challenge critics of NBS expansion who argue that a disorder should only be included in a screening panel if an effective treatment exists (Botkin et al., 2006). While our respondents overwhelmingly indicated that they would be interested in newborn testing to be prepared for the birth of a child with a genetic disorder, a large majority also agreed that they would use information from newborn testing for fatal neurological disorders in their future reproductive decisions.

While support for NBS was quite high in our study, it is notable that prospective parents' attitudes were somewhat less positive than those of the general public. Because policies about genetic testing should be influenced by as broad a population as possible, these findings highlight the importance of assessing the opinions of a variety of stakeholder groups, including prospective parents, but also the general public. We believe that our sample of students and expecting parents represents the broader community of individuals who will come into contact with newborn genetic testing processes (i.e., a cohort of reproductive-age individuals), but we also included those who may be past child-bearing age. Including a variety of stakeholders in discussions about NBS would allow for consideration of the range of parent and public preferences regarding NBS panels. In so doing, planned expansions of NBS programs might better respect key stakeholder preferences and role in decision making, in particular that of expecting women and their partners.

We found few variables that were related to attitude toward NBS for inherited hearing loss, eye diseases, and neurological disorders. In contrast to our findings, prior research reported that having already had children and lower levels of education were both associated with a more positive attitude toward neonatal screening (Plass et al., 2010). In our study, it may be that there was too little variance in attitudes to explain since the interest in NBS was so high. Older respondents had a more positive attitude than younger respondents, as did those who indicated either they or their family and friends had a history of vision loss. It may be that younger participants who were currently expecting a child or those at reproductive age (e.g., students) were slightly more critical of the decision to have their newborn tested since this is a decision some of them currently face or will face in the near future. As such, they may have given the decision more thought. We cannot explain why a history of vision loss affected attitudes toward both hearing and neurological disorders. Additional research is needed to determine which factors affect attitude to anticipate NBS uptake as panels expand and to develop effective information resources for consumers of such services.

Our findings are limited by the lack of sample representativeness. Respondents were mostly women, recruited from “engaged” settings (e.g., hospitals, clinics, and prenatal classes), and highly educated. Current and prospective parents with less education may have different opinions. However, the inclusion of students, as well as expecting parents, in addition to members of the general public may help ensure that a broader range of attitudes was measured. Findings are useful as they provide the first empirical evidence in our jurisdiction of strong support for NBS for several disorders, notably all without effective treatments, with one category of disorders being fatal. Findings lend support to the expansion of NBS panels to include those disorders for which no treatments exist and highlight the value of including the views of diverse stakeholders in NBS policy discussions. Finally, the study underscores the need for continued research and consideration of current and prospective parents' opinions in the development of NBS policies and services.

Footnotes

Acknowledgments

The authors thank respondents for their time and interest. The authors also thank Janice Dawe, Vida Black, Robert Wilson, and Geoff Warden for their help with recruitment and data entry. The fund for this study was provided by the Atlantic Canada Opportunity Agency's Atlantic Innovation Fund through a grant to P. Parfrey.

Disclosure Statement

All authors confirm that no competing financial interests exist.

References

Alexander

, van Dyck

. 2006. A vision of the future of newborn screening. Pediatrics, 117:S350-S354.

Botkin

, Clayton

, Fost

et al. 2006. Newborn screening technology: proceed with caution. Pediatrics, 117:S923-S929.

Brunger

, Murray

, O'Riordan

et al. 2000. Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet, 67:1621-1625.

Canadian Organization for Rare Disorders. 2010. Newborn screening in Canada status report. http://raredisorders.ca/documents/CanadaNBSstatusupdatedNov.112010.pdf. 2010 November 16.

Cohen

. 1992. A power primer. Psychol Bull, 112:155-159.

Hasegawa

, Fergus

, Ojeda

et al. 2011. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics, 14:298-306.

Lipstein

, Nabi

, Perrin

et al. 2010. Parents' decision-making in newborn screening: opinions, choices and information needs. Pediatrics, 126:696-704.

Moyer

, Calonge

, Teutsch

et al. 2008. Expanding newborn screening: process, policy and priorities. Hast Cent Rep, 38:32-39.

Plass

, van El

, Pieters

et al. 2010. Neonatal screening for treatable and untreatable disorders: prospective parents' opinions. Pediatrics, 125:e99-e106.

10.

Potter

, Avard

, Entwistle

et al. 2009. Ethical, legal and social issues in health technology assessment for prenatal/perceptional and newborn screening: a workshop report. Public Health Genomics, 12:4-10.

11.

Rahman

, Jones

, Curtis

et al. 2003. The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet, 12:R167-R172.

12.

Tabachnik

, Fidell

. 1997. Using Multivariate Statistics, 5th. Harper Collins: New York.

13.

Watson

, Mann

, Lloyd-Puryear

et al. 2006. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics, 117:S296-S307.

14.

Wilson

, Junger

. 1968. Principles and Practice of Screening for Disease. Public health Papers. World Health Organization: Geneva.

15.

Wilson

, Kennedy

, Potter

et al. 2010. Developing a national newborn screening strategy for Canada. Health Law Rev, 18:31-39.