American Journal of Medical Genetics 120A:209–214 (2003)

Parental Attitudes Regarding Newborn Screeningof PKU and DMD

Elizabeth Campbell1 and Lainie Friedman Ross2*1Department of Sociology, University of Chicago, Illinois2Department of Pediatrics and the MacLean Center for Clinical Medical Ethics, University of Chicago, Illinois

The ability to perform predictive genetictesting of children raises ethical concerns.Current guidelines support the screeningof newborns for conditions in which earlytreatment reduces morbidity and mortality,and oppose most other predictive geneticscreening and testing in childhood. Little isknown, however, about parental attitudes.We conducted focus groups to gain informa-tion on the attitudes, beliefs, and concernsof parents about newborn screening andtesting for both treatable and untreatableconditions that present in childhood. Re-spondentsacross racial groups supportman-datory newborn screening for treatableconditions like phenylketonuria (PKU), cit-ing lack of parental knowledge, and con-cerns about immature parental decision-makers. Parents do, however, want moreinformation. Citing a variety of psychosocialconcerns, respondents believe that parentsshould have access to predictive genetictesting for childhood onset conditions, evenwhen there are no proven treatments. Re-spondents want this information to makereproductive and non-reproductive plansand decisions. Although respondents variedin their personal interest in testing, over-whelmingly they believed that the decisionsbelong to the parents. Professional guide-lines that proscribe predictive testing foruntreatable childhood onset conditionsshould be re-examined in light of consumerattitudes. � 2003 Wiley-Liss, Inc.

KEY WORDS: newborn screening; geneticscreening; predictive test-

ing;Duchennemusculardys-trophy; parental attitudes;informed consent; childhoodonset conditions; right toknow

INTRODUCTION

Currently, most newborn screening in the US focuseson conditions for which early treatment reduces morbi-dity or mortality (e.g., phenylketonuria [PKU], an in-born error of metabolism that leads to severe mentalretardation unless appropriate dietary measures areundertaken). In the US, screening is mandatory in allstates except Wyoming and Maryland, and is donewithoutparental consent, oftenwithoutparental aware-ness. In Maryland, where consent is required, over 99%of parents consent to test [Faden et al., 1982]. In the lastdecade, US professional opinion has evolved to supportthe mandatory offering of newborn screening, butrequiring parental consent to test [Institute ofMedicine(IOM), 1994; American Academy of Pediatrics (AAP)Committee on Bioethics, 2001]. The issue of consent willbe of increasing importance with the expansion of new-born screening to include conditions for which earlytreatment is equivocal or experimental.

Contrast routine newborn screening with predictivenewborn screening for untreatable conditions thatpresent later in childhood (e.g., Duchenne musculardystrophy [DMD], a progressive neurodegenerative dis-order that begins around school age with death in thethird decade of life). Newborn screening for DMD iscurrently offered in only a few countries. The pilotresearch study in Wales that began over a decade agois probably the best known. Mothers of male infantsare offered screening, and voluntary informed consentis required. Over 94% of parents consent to testing[Clarke, 1997]. In the US, newborn DMD screening isnot offered. In general, the professional communitiesin bothBritain and theUSare against predictive genetictesting of children when there are no preventive ortherapeutic measures that can be implemented tochange the course of the disease or disorder [Instituteof Medicine (IOM), 1994; Working Party of the ClinicalGeneticsSociety(UK),1994;AmericanSocietyofHuman

*Correspondence to: Dr. Lainie Friedman Ross, M.D., Ph.D.,Department of Pediatrics, University of Chicago, 5841 S. Mary-land Ave, MC 6082, Chicago, IL 60637.E-mail: lross@uchicago.edu

Received 30 August 2002; Accepted 3 December 2002

DOI 10.1002/ajmg.a.20031

� 2003 Wiley-Liss, Inc.

Genetics (ASHG)/American College of Medical Genetics(ACMG), 1995; American Academy of Pediatrics (AAP)Committee on Bioethics, 2001].

In this paper, we discuss our findings from focusgroups with parents, comparing and contrasting theirattitudes regarding newborn screening for these twoconditions.Wealso explore how these attitudes comparewith the opinions expressed in professional consensusstatements.

MATERIALS AND METHODS

This study is based on focus groups conducted in theChicago area. In order to ensure a diverse collection ofrespondents, focus groups were organized at variouscommunity institutions in the greater Chicagolandarea, focusing on the South side of Chicago and theWestern suburbs, the catchment area for theUniversityof Chicago. After a pilot focus group to refine the ques-tions and format, twelve 2 hour focus groups wereconducted using a semi-structured interview schedule.Five testing scenarios were presented: newborn screen-ing for (1) PKU and (2) DMD and childhood testing forBRCA (3), carrier status (4), or behavioral genetic traits(5). All five scenarios focused on the testing of children,with only one question on breast cancer addressingparental desire to test themselves. The focus of thismanuscript is a qualitative examination of parentalattitudes and beliefs regarding newborn screening fortwo conditions that present in childhood: PKU andDMD. A complete methodology is given elsewhere[Campbell and Ross].

We conducted 12 focus groups comprised of 4–12respondents. In an attempt to attract parents fromdiverse economic and ethnic communities, the parentswere recruited into the focus groups from local institu-tions: three from elementary schools (two private), fivefrom churches (two suburban), and four from a federallyqualified health center. Overall, there were 102 respon-dents, 18 males and 84 females. There were seven focusgroups composedofAfrican-American respondents only.Additionally, therewere three focus groupswith amix ofwhite andAfrican-American respondents, and two focusgroups of only white respondents. In eight focus groups,there were both male and female participants, whilefour were made up of only women.

In the sample, respondents ranged in age from 18to 69 years, with an average age of 39.36 years. Onaverage, respondents reported having 2.47 children,with one to seven children. The range of children’s agesreported was from 3 weeks to 50 years of age, with theyoungest child averaging 8.52, and the oldest averag-ing 14.74. Most (84/102) respondents reported livingwith their children. About one quarter of respondents(24/102) reported living with a child with a chronicillness. Upon the advice of the advisory board to thisproject, extensive demographic information includingeducation and income were not collected.

IRB approval was obtained from the University ofChicago. Oral consent was obtained for focus groupparticipation and tape recording. Respondents werecompensated $25 for their participation.

RESULTS

Overwhelmingly, respondents supported newbornscreening for PKU. The only costs of the screeningmentioned by respondents were insurance coverageafter diagnosis (n¼3 focus groups), not being able tobreast-feed if a child had PKU (n¼1 focus group), andfurther use of blood samples for research (n¼4 focusgroups). Concerns about the use of blood samples forresearch ranged fromthe concern that the childmightbeused as a guinea pig (n¼1), that parents should knowfor what purposes the blood is being taken (n¼ 3), andwhether the governmentmight use the samples to cloneother children (n¼ 1).Overall, there is little informationwithin the community regarding newborn screening,despite the fact that a number of individuals receivedabnormal screening results, and their children had to beretested (e.g., for PKU and various hemoglobinopa-thies). In only three groups, were respondents able togive any accurate information about these mandatorytests (e.g., the name of conditions for which screeningwas done (n¼3 focus groups), the problems associatedwith the conditions and the need for treatment (n¼ 2focus groups).Most respondents did not know that thesetests had been done or what conditions they mightdiagnose. In four groups, no respondent could giveany information regarding newborn screening. In fivegroups, only one respondent could say something aboutPKU (n¼ 4) or sickle cell (n¼ 1). Across focus groups,respondentswere unclear about the differences betweenmandatory newborn screening and testing infants fordrugs and alcohol, jaundice, and congenital infections.

Parental attitudes regarding themandatory nature ofscreening were also assessed. The majority of respon-dents supported mandatory testing because of concernsthat some parentsmay refuse out of ignorance (six focusgroups), with three groups targeting their concern atteenage mothers. As several respondents suggest, someparents may not make the right choice for the healthof their child. Here a mother disagrees with makingnewborn screening voluntary, saying:

A lot of people just don’t have the knowledge,they don’t have the understanding of what thelong term complications can be. They don’t havethe medical knowledge, and they are basing it onother factors like I don’t want my child to be hurt.I don’t want any blood drawn. I don’t want what-ever . . . [W]hen it comes to something that is,something, like PKU, it can cause a lot of pro-blems down the line for the child and if the parentdoesn’t have a good understanding of those issues,then I don’t think that they should say no, thatthe child should not be tested.

Corinne, mother of two (St. Joseph focus group)

While most respondents supported mandatory new-born screening, some parents, in four of the 12 focusgroups, argued in favor of voluntary screening thatwould require parental consent. Respondents suggestedtwo main reasons: religious beliefs and the key role of

210 Campbell and Ross

parents as the final arbiters for health care decisions oftheir children. Here a mother suggests that she indeedshould be involved in the decision to test her child:

My feeling is well, I would say I feel that theyshouldn’t just do it, you know, run a test with outthe knowledge of the parent, you know, becausethen, maybe, you know, they may want to useyour child as a guinea pig, you know, or just runall kinds of unnecessary tests or something.

Paula, mother of two (Sanford Health Clinicfocus group 4)

Regardless of their attitude towards mandatoryversus voluntary screening, most respondents wereadamant about the need for greater education ofparents. As one respondent describes her experience ofthe newborn screen, ‘‘But your child [sic] are your ownandyou should benotified ofwhat’s going on. I also thinkthat you should be aware ofwhat you can consent to. Theway things were done was like ‘This is what we do.’ It’snot like you have a choice.’’ (Colby focus group.) Not onlydid respondents feel that parental education andinformation were important, many suggested thatinformation be given prior to labor and delivery duringthe 9 months of prenatal care. This idea was raisedspontaneously in 7/12 focus groups. As one mothersuggested:

If you come to me and tell me we have to dothese tests right when my child is born, my mindwould start racing and wondering if my child hasthis or that disease. While I’m pregnant or evenbefore, if it’s a married couple, prepare them andtell them what’s going to happen to your childafter it’s born. I would prefer to have informationprior to having the child so I wouldn’t be scaredhalf to death.

Lauren, mother of two (Colby focus group)

While respondents were overwhelmingly supportiveof newborn screening for PKU, they weremoremixed intheir interest in screening healthy infant males forDMD. In eight focus groups, respondents were split onwhether they would want to test their male newborn. Inthe remaining four focus groups, there was only onerespondent in each group who did not want to test theirnewborn male child.

Parents who wanted this information said that theywanted it to prepare. Sometimes this planningwas quitepragmatic, as parents talked of altering their reproduc-tive plans, changing jobs, accessing resources, or chang-ing child’s schools. For example, parents raised issuesaround schooling in 9 of 12 focus groups, ranging frominformingpeople at the school about the child’s conditionto arranging for special schools for their child. But evenwhen parents wanted to know their child’s diseasestatus, they feared the effect the informationwouldhaveon their decisions. As one respondent said of reproduc-tive decision making, ‘‘And also it would affect having

more children probably. Which is good and bad, I mean,I’d like to know, so you don’t pass it on to a second child,but yet, I would hate to be that afraid to have anotherchild.’’ (Sanford Health Clinic focus group 3.)

Many parents were unwilling to accept that no pre-ventive measures could help in DMD. In eight focusgroups, respondents spoke about looking for new oralternative health care treatments and two wouldmodify their child’s diet. Prayer was also called uponin response to a positive diagnosis. For example, onemother talked about a mix of practical and emotionalpreparation:

I would [test my child] because if I know thenI will know exactly what to do because I have tothink first of all, okay, and there go my herbalremedies also. I would pray because if Godanswers prayer because I know he did it withme and he could do it with that child.

Fannie, mother of four (Apostolic Church focusgroup 1)

Parents also talked of emotionally preparing them-selves and their families through education and gradualdisclosure of disease status. As one respondent reported,shewould test at birth to prepare herself, ‘‘With no cure,no treatment, and it is going to happen. I would wantto prepare mentally.’’ (Sanford Health Clinic focusgroup 1.) She continues to talk about preparing herson and other children:

You’d never want to break their heart. At 6,they will know something’s different about themcompared to their brothers and sisters. They willcome to you with questions. You can talk to themand prepare them. They can prepare. They canpass on to their brothers and sisters knowledge. Ifthey had a sibling that also had the disease, theycould tell them what they are going through.

Olivia, mother of five (Sanford Health Clinicfocus group 1)

Whilemany respondents wanted to know their child’sdisease status, they, aswell as parentswho did notwantto test, talked about how this informationmight changehow they reared their child. Many stated that if theyknew, they would try to give their child more opportu-nities when he was young in terms of travel or evenquality time together. Others expressed concern thatthey would limit their child’s physical activities. In thefollowing exchange, two respondents question whetherthey would be able to treat their children in a consistentway, particularly whether they would be able to discip-line a son with DMD.

Zachary: Okay, let’s say your son is turning6 years old and trying to learn how to ride a bike.You tell him not to take the bike, that you don’twant him on the bike. You come home and he’sriding the bike.

Parental Attitudes About Screening 211

Trina: Then h’s going to get in trouble the sameway another one would because he did somethingI told him not to do.

Zachary: I’m not sure about that. (Colby focusgroup.)

Parents who had a child with a disability or chroniccondition were particularly critical of the ability ofparents to treat all their children the same. As thismother highlights:

From personal experience, I was told my sonwasn’t going to live past a month. I’ve noticed thatI treat my children differently from that point. Itmakes you realize just how precious life is andhow important time is, and I have certainlychanged my lifestyle. I don’t take so many thingsfor granted anymore. It’s like a turning point.When you hear that you’re not going to have yourchild at a certain point, then it changes you. Thathas nothing to do with discipline and those things,but it has a lot to do with quality of life and whatyou do with that child.

Mother (Colby focus group)

Nooneexpressed concern that theywouldbeunable tobond with their child once they knew his disease status,but some did wonder if other parents might not be ableto handle the stress. Nevertheless, in all of the groups,respondents stated that the parents should be the finalarbiter about whether or not to have their child tested.

DISCUSSION

Many potential clinical, psychosocial, and reproduc-tive risks andbenefits of screening forPKUand forDMDwere enumerated in our focus groups. Across whiteand black respondents, we found similar concerns andopinions about testing for both PKU and DMD. Therewas wide agreement about the benefits of PKU screen-ing in the newborn period given that early treatmentwas important, and the only costs expressed were con-cerns about insurance coverage after diagnosis, furtheruse of blood samples for research, and one woman’sconcern that with a positive diagnosis, she would not bepermitted to breast-feed.

PKU was supported on the grounds that it was in theinfant’s best interest to be diagnosed and treated early.Many supportedmandatory testing because they fearedthat some less educated or very young parents wouldrefuse out of ignorance. However, many of the respon-dentswere surprised by their own ignorance and arguedfor better education. Most parents were less concernedabout whether consent was required but more concern-ed that they were informed. Some admitted that theymay have been told ‘‘something’’ about newborn screen-ing in the nursery, although they were often unable toprovide details. Somewere just told the name of the test.Many suggested that given its universal andmandatorynature, information could have been discussed prena-

tally, during the 9month of appointments. Thenparentswouldhavemore time to learn about these issues, ratherthan be confronted with the need for this screeningpost-birth as they are getting ready to leave thehospital.To place the responsibility of educating parents aboutnewborn screening into the prenatal setting wouldinvolve a major shift in practice because newbornscreening is currently in the purview of pediatricians.

In contrast, there were quite variable responses re-garding the desirability of predictive screening of DMD.The twomain benefits of DMDscreening at birth are: (1)the clinical benefit of reducing the delay in diagnosis[Marshall and Galasko, 1995; Bushy et al., 1999] and(2) the potential for parents to make informed futurereproductive decisions [Bushy et al., 1999; Parsonset al., 2002]. These benefits were mentioned by severalrespondents. Our respondents also suggested that itwould allow parents to research the existence of experi-mental therapies and complementary and alternativemedicine modalities. But for many, the value of testingfor DMDwasmainly for family preparation—emotionaland financial. Knowing that a child has the gene forDMD allows parents to make other life plans for theirchild and for themselves in a more informed manner.These potential benefits must be balanced against thepotential risks. There are the potential clinical risksthat the parents will seek unproven and harmfultherapies. Again, at least one respondent talked aboutchanging the child’s diet. There is the potential re-productive risk that the parents will later regret anydecisions based on their perception of disease burden.And there are the potential psychosocial risks of label-ing and stigma [Institute of Medicine (IOM), 1994;AmericanSociety ofHumanGenetics (ASHG)/AmericanCollege of Medical Genetics (ACMG), 1995]. Someparents whose children test positive may treat the childas ill even before symptoms develop, and/or becomeoverprotective (vulnerable child syndrome) [Clayton,1999]. Itmaymake it difficult for the family to procure orchange insurance [Billings et al., 1992; Geller et al.,1996]. But there are scant data regarding whether therisks outweigh the benefits generally, and whether therisks outweigh the benefits for any particular familycannot be known a priori.

Our respondentsweighed these potential benefits andrisks differently, and some were influenced by the com-ments of other respondents. Most, however, believedthat regardless of whether they would want to test theirown sons, testing should be offered, and parents shouldbe the final arbiters. This goes against all of the majorconsensus statements that argue against predictivescreening of children and infants when no treatmentsexist, particularly when the condition is fatal. TheIOM is quite specific: ‘‘Childhood testing is not appro-priate for. . .untreatable childhood diseases.’’ [Instituteof Medicine (IOM), 1994]. As such, the IOM would beagainst predictive newborn screening or targeted new-born testing in families at high risk for DMD, althoughnot against diagnostic testing once symptoms develop.No respondent expressed a concern about why testingwould be offered if nothing could be done clinically,probably because they appreciated the non-clinical

212 Campbell and Ross

benefits and risks of such testing. While professionalcommunities in both Britain and the US are againstpredictive genetic testing of children when there areno preventive or therapeutic measures [Institute ofMedicine (IOM), 1994; Working Party of the ClinicalGenetics Society (UK), 1994; American Society ofHuman Genetics (ASHG)/American College of MedicalGenetics (ACMG), 1995; American Academy of Pedia-trics (AAP) Committee on Bioethics, 2001], the GeneticsInterest Group (GIG), an umbrella organization forfamilies with genetic disorders in the UK, has arguedfor the rights of parents to decide whether to test forchildhood onset conditions like DMD. GIG enumeratespossible psychosocial reasons why parents might wantthis information [Dalby, 1995]. The psychosocial con-cerns that arose in our focus groups echo those elabo-rated by GIG. Recently, several ethicists have argued insupport of greater parental autonomy along similarlines [Robertson and Savulescu, 2001; Ross, 2002].

Nevertheless, in contrast with the high uptake (94%)for DMD screening in Wales [Clarke, 1997], we did notfind such uniform interest in DMD screening. Oneobvious explanation for thedifference is the cultural andethnic differences between the twopopulations.Andyet,in this country, newborn screening for type 1 diabetes isbeing offered experimentally in two states (Florida andColorado) [Flanders et al., 1999; St. Petersburg Times,2002]. The test informs parents that their child has anincreased risk of developing type1 diabetes by the age of20 (from one in 300 risk in the general population to 1 in15 in those at highest risk) [Flanders et al., 1999], butcurrently no preventive measures exist. Despite thelower predictive value of screening for type 1 diabetes,the program also has a 94% uptake rate [Flanders et al.,1999]. This is in contrast with genetic testing in theadult population in which uptake for genetic tests arelow when there are no effective ways of treating orpreventing the condition [Marteau and Croyle, 1998;Meiser and Dunn, 2000]. If little can be offered, mostpeople do not want information about their own riskstatus [Marteau and Croyle, 1998].

Why, then, might so many families consent to screen-ing of their newborns for conditions in which earlytreatment is of no clinical benefit? Although our re-spondents argued for the need to prepare emotionally,psychologically, and financially, it may be that parentsare really looking for reassurance [Marteau, 1995].

A second explanation is that it may be that parentalconsent isnot truly informed.Wertzargues that even if aspecial informed consent, as suggested by several com-missions, were required for any conditions on a multi-plex screen that did not offer early medical benefits tothe newborn, the pressure of the hospital setting, theparents’ physician and their emotional condition imme-diately after birth, and the cultural belief that ‘‘medicaltesting is good for you’’ will still lead most parents toconsent [Wertz, 2002].

Similarly, it may be that parents do not understandthe true purpose of screening, particularly in theresearch context: ‘‘the public is unaware of manyimportant facts about the risks and costs of screeningand entertains wishful thinking about the effectiveness

of prevention.’’ [Beaulieu et al., 1999]. That is, even if theresearchers are quite clear that the research is purelydiagnostic, many subjects and their families hold atherapeutic misconception of the therapeutic utility ofthe research [Appelbaum et al., 1987]. The subjects andtheir families believe that there must be some type oftreatment because otherwise there would be no reasonfor the physicians to offer testing.

Finally, in discussing PKU screening, our respon-dents insisted that education and informed consentwere not a viable option after labor and delivery becausethey were too preoccupied, but that the informationcould be effectively understood during the prenatalperiod. As such, one must wonder whether procuringconsent for DMD screening immediately after birth canbe truly informed, unless parental education were tobegin antenatally.

An important limitation of this study is that the focusgroups were not statistically representative but repre-sented a convenience sample. Nevertheless, we did seekrespondents from various institutions and communitiesfrom different parts of the South and Southwest side ofChicago to ensure a diversity of individuals. In additionto the regional particularity of Chicago, the sample sizeremains small. Another potential limitation of our focusgroup findings is that respondents were often confront-ing hypothetical situations, which they had not pre-viously considered. Focus groups, however, may be anideal place for the exploration and discussion of pre-viously unfamiliar medical and genetic informationamong respondents [Kerr et al., 1998]. In each focusgroup, we found a range of pre-existing information andeducationabout genetic testingand conditions.Throughthe exchange of information, scenarios, and questionsbetween the focus group leader and participants, it wasapparent that respondents were processing new infor-mation and hypothetical situations. These exchangesallowed the respondents together to explore theirindividual understandings and reactions to geneticinformation and testing. During the course of the focusgroups, it is likely that some individual voices were notheard, as some respondents did not speak out [Stewartand Shamdasani, 1990], and others were swayed bydominant voices [Carey and Smith, 1994; Channocket al., 1997]. Clearly further research is needed onparental attitudes on genetic testing, and large scalequantitative studies should be able to create moregeneralizable findings once adequate measures andquestions are developed.

CONCLUSION

Parents are supportive of newborn screening for con-ditions in which early treatment can reduce morbidityand mortality. Although the professional communitiesare concerned that screening should not be mandatory,parents are more concerned about being informed.Parents have a more mixed attitude about newbornscreening for conditions in which early treatment isineffective, although they believe that it should beoffered, and that parents, not professionals, should bethe final arbiters. Despite the professional consensus

Parental Attitudes About Screening 213

position against predictive screening of children, it isbeing offered for some conditions in some areas, andmore can be expected as the number of genetic testsexpands. Research is necessary to determine how andwhen to best educate parents in order that they canmake informed decisions regarding such screening. Inaddition, further dialogue is necessary between the pro-fessional communities and the lay public to ensurethat professional guidelines take into consideration theneeds and interests of parents and families.

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