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Genetic Counseling and Risk Communication Services of Newborn Screening Programs
Michael H. Farrell, MD;
Laura K. Certain;
Philip M. Farrell, MD, PhD
Arch Pediatr Adolesc Med. 2001;155:120-126.
ABSTRACT
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Objectives Newborn screening test results labeled "positive" can have uncertain
implications for parents, especially when false-positive results occur or
when heterozygous infants are detected using molecular tests for sickle cell
hemoglobinopathy or cystic fibrosis. This study surveyed communication services
across state newborn screening programs.
Methods We surveyed newborn screening programs to identify current communication
practices and the methods used for quality assessment. Two successive survey
instruments with fixed-answer and free-answer questions were distributed to
screening program follow-up coordinators or similar designated officials associated
with 52 states and territories.
Results Replies from 46 respondents (89% response rate) revealed that regional
newborn screening programs vary widely in their approaches to counseling.
Of the 46 respondents, 35 (76%) answered that they "routinely" provide counseling
services to families of affected infants. Depending on the disease, an average
of approximately one-half that number provide counseling after false-positive
results or for heterozygous infants. Most respondents advocate nondirective
counseling more than direct advice. Most programs reported that counseling
was usually done by subspecialist physicians or specially trained nurses and
counselors. Respondents reported a perception that the "quality" of counseling
by these professionals is better than counseling by primary care physicians.
Few programs reported systems for assessing quality assurance of counseling.
Conclusions Newborn screening programs in the United States vary widely with regard
to counseling practices, and no best practices are currently evident. Few
programs provide counseling quality assurance. Further study and advocacy
is needed to optimize communication services, preferably before implementation
of molecular tests arising as a result of the Human Genome Project.
INTRODUCTION
NEWBORN screening has been described as
a population-based public health program applying preventive
medicine in defined regions to reduce newborn morbidity and mortality from
certain biochemical and genetic disorders by using presymptomatic detection/diagnosis
with dried blood specimens analyzed in central laboratories employing automated
procedures and linked to clinical follow-up systems.1
This and other descriptions emphasize the comprehensiveness of newborn
screening programs, but they are less specific about the nature of "clinical
follow-up systems" and the communication services required for interacting
with families. Undoubtedly, newborn screening tests provide valuable medical
information to the families of millions of infants each year. Ever since phenylketonuria
(PKU) screening was implemented during the 1960s, newborn screening programs
have become an important public health service and a key element in preventive
pediatrics.1 Despite their great success, there
is clearly a need for improvement and better consistency across regions.2 Previous observations1, 2, 3
suggest that more critical appraisal and efforts toward continuous quality
improvement would help enhance these already competent programs. Attention
is needed with regard to both laboratory test procedures3
and follow-up activities for infants with false-positive and true-positive
(disease-affected) test results. Depending on the condition, the false-positive
population can include infants with a heterozygous trait or infants identified
by an error in laboratory testing. This false-positive group is about 50-fold
larger than those groups actually diagnosed with congenital disorders3 and has received very little attention.
The psychosocial and financial implications of newborn screening results
are unclear, and families with an affected infant may face discrimination,
reduced insurability, or other disadvantages.4, 5
These adverse consequences may be especially disconcerting for families of
infants with with false-positive results, or in whom a heterozygous or "trait"
status is found, such as cystic fibrosis6, 7
or sickle cell hemoglobinopathy.8, 9, 10
There are also concerns that parents may have impaired bonding and weakened
long-term relationships with their essentially healthy children,11, 12
or that they may become preoccupied with a pessimistic future for their child.13, 14 Unfortunately, parental decision-making
after a positive newborn screening test is poorly understood.15
Posttest counseling can potentially reduce confusion among families of affected
infants, carriers, or healthy newborns with false-positive results and perhaps
prevent psychosocial complications.16 As the
Human Genome Project17, 18 and
other scientific advances19, 20
create more opportunities for testing, the need for effective counseling also
increases.12 This is true for tests that screen
for congenital disorders, but it is just as important for many future tests
that screen for disease risk in older individuals.21
The implementation of these potentially valuable tests may be limited by societal
anxiety about the potential harms from the test results.
In developing the counseling services for the Wisconsin Cystic Fibrosis
Neonatal Screening Project,15, 22
we were aware of anecdotal reports of counseling in some newborn screening
programs, but little was known about the prevalence of these services nationwide
or about their effectiveness. In addition, the uncertainty about counseling
skills and the complexity of the subject matter being communicated raise questions
about what might be called the "quality" of counseling. We designed this study,
therefore, to determine the status of risk counseling services in newborn
screening programs in the United States, and to determine which services were
known to be the most effective or "best" practices. We first held discussions
with members of the group then named the Council on Regional Networks Newborn
Screening Committee, and realized that little information was available and
that no best practices were apparent. Consequently, we decided to develop
an instrument that extended beyond simple practices into the goals and perceptions
of program officials. The objective of this wider approach was to provide
a foundation for further improvement of wide-scale counseling about complex
tests.
METHODS
SURVEY INSTRUMENT DEVELOPMENT
We designed an initial, focused instrument addressing concerns from
the genetic counseling and risk communication literature.12, 23
The instrument was pretested during informal discussions with some newborn
screening officials and other leaders. The final instrument was composed of
2 packets with different questions, depending on whether or not the responding
program routinely performed posttest counseling. Thus, the respondents selected
1 of the 2 packets based on their response to a statement on the cover sheet:
"Please fill out this packet if your state routinely provides counseling services
to families of newborns with any positive screen." The packets were each composed
of 39 detailed multiple-choice questions and 17 free-response questions, with
ample space for comments after most items. We included inquiries about operational
issues, including counselor background, methods, venue, and which diseases
are felt to merit counseling. We also asked each respondent about the use
of tools for quality assessment or counselor evaluation. Reasoning that the
opinions of our respondents could suggest future policies, we asked about
the perceived goals of counseling, and attitudes about counseling from different
types of professionals. To simplify the instrument, most questions were general,
and we encouraged the respondents to comment separately about variation for
different diseases or populations. All materials were reviewed and approved
by institutional review boards at the University of Wisconsin, Madison, and
the University of Michigan, Ann Arbor.
PARTICIPANTS
Since we were interested in posttest counseling, we attempted to direct
the survey to each program's designated follow-up coordinator, who might be
expected to know the most about counseling procedures. In most cases, we identified
these officials from a list provided by Brad Therell, PhD, of the Council
on Regional Networks' Newborn Screening Committee. For programs without an
official follow-up coordinator, we encouraged the program directors to either
select a designee or fill it out themselves. There was some reported overlap
between program responsibilities, so a total of 52 surveys were sent to newborn
screening programs associated with each of the 50 United States, the District
of Columbia, Puerto Rico, and the US Virgin Islands. The respondents were
assured of confidentiality. Surveys were mailed in mid 1998, and returned
by early 1999. To attain our goal response rate, all survey recipients received
at least 1 recruiting phone call. These calls provided valuable information
through lengthy and sometimes passionate discussions. Indeed, the telephone
interviews helped identify some concerns that had not been addressed in full
detail within the format of the instrument.
ANALYSIS
Identifying information was removed from all returned materials in order
to ensure the anonymity of the responding state and official. Responses were
tabulated and organized in a database (Microsoft Excel; Microsoft Corp, Redmond,
Wash), and investigators were blinded to the responding state. In most cases,
the sample of responses represents a substantial fraction of the overall population
of newborn screening programs. Thus, most responses are simply reported as
a fraction of the eligible subset denominator. For some questions, the  2 test was used to compare the response with the 50:50 ratio that might
be expected by chance. Free response items and informal data are reported
qualitatively where appropriate.
FOLLOW-UP SURVEY
Despite efforts to clarify the instrument, we were often uncertain as
to whether the respondents' comments about counseling related only to children
diagnosed with the disease, or if programs also counseled families of infants
with false-positive results or heterozygous trait status. In addition, some
respondents' comments seemed to blur the distinction between infants with
false-positive results and heterozygous infants, perhaps simply to classify
them as "not diseased." To clarify whether programs give any priority to these
infants, we decided to contact the respondent again with another questionnaire.
This second survey consisted of 6 multiple-choice questions and 2 free-response
questions with room for comment after each.
RESULTS
RESPONSES
After at least 1 telephone recruiting call per potential respondent,
we achieved an 89% response rate (N = 46). Several respondents revealed strong
feelings about the survey, both positive and negative, and many attached extensive
comments and materials from their counseling programs. The group designated
as follow-up coordinators comprised a wide variety of professionals, mostly
including nurses and public health professionals, as well as a few social
workers and physicians. Passive information available on the 6 nonresponding
programs did not demonstrate systematic differences.
We were surprised by the volume of written comments and by the candor
and interest expressed during the telephone interviews. During these calls,
most potential respondents were very enthusiastic about the need for the project,
but others objected strongly. Many said that the answers to our questions
were "obvious," although their answers often disagreed with the next person's
obvious answers. Some were concerned that "negative results" from the survey
might be used by political opponents to argue against government-funded newborn
screening programs or against counseling. Others had concerns that the results
might be used in future litigation, perhaps identifying that a program is
substandard or inferior in a certain way. Nevertheless, the most common comments
came from coordinators who asked us about what the findings of our study had
been thus far. Although some officials had concerns about the judicious publication
of our results, many were interested in broadening their communication services
but wanted guidance because they were uncertain as to what steps to take next.
COUNSELING SERVICES
Respondents indicated their overall counseling practices by choosing
one or another of the labeled survey packets. Of the 46 respondents, 35 (76%)
chose packet 1, thus reporting that they routinely perform some sort of genetic
or other risk counseling to families of infants with positive newborn screen
results. The remaining 11 respondents (24%) indicated that they do not usually
provide counseling to families of infants with positive newborn screen results.
Of those program coordinators who said they provide such counseling, 22 (63%)
responded that they "always" do so. Separated by different diseases, the variation
in counseling services was greater than we anticipated. As presented in Table 1, most counseling programs communicate
about the 4 disorders most commonly included in newborn screening panels,
namely phenylketonuria, congenital hypothyroidism, galactosemia, and hemoglobinopathies.
Communication services are less commonly provided for the other conditions.
In addition, most programs counsel only for infants with a diagnosed disease,
and do not provide education for families of infants with false-positive or
"trait" results. Results of the follow-up survey (response rate, 22/52 or
42%) suggested that little of this counseling is offered. We used a ratio
to interpret the differences in counseling practices for the various diseases.
These ratio values, listed in Table 2,
consisted of the percentages of programs that counsel families of infants
false-positive results, divided by the percentage of counseling programs offered
for the disease itself (ie, for families of infants with true-positive results).
The ratios range from 38% (for congenital adrenal hyperplasia) to 68% (for
hemoglobinopathies).
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Table 1. Screening Tests for Disease and Counseling About Results Among
US Newborn Screening Programs*
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Table 2. US Newborn Screening Programs Counseling for True-Positive
and False-Positive Tests*
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COUNSELING PROVIDERS
Since counseling skills, interpersonal interactions, and framing effects
can influence understanding,24 we asked for
percentage estimates of the different types of counseling professionals. Responses
varied widely, and were occasionally left blank. Some respondents said they
were uncertain as to provider demographics. Of the 35 programs that provide
routine counseling, coordinators at 17 (49%) estimated that most of their
counselors were female, 11 (31%) of 35 had no clear idea about the sex of
their counselors, and 3 (9%) of 35 reported male predominance.
The race or ethnicity of the counselors was reported by 28 respondents,
and 22 (63%) estimated that their counselors were predominantly white, while
5 (14%) of 28 of program coordinators said that at least half of their counselors
were African American. Only 3 of 28 respondents reported exclusively white
counselors. Some respondents added that most sickle cell hemoglobinopathy
counselors were African American.
When asked about the professional backgrounds of counselors, each respondent
reported a unique combination of providers, which often varied for each disease
condition. The percentage of respondents reporting the presence of each type
of professional is presented in Table 3. Many program coordinators reported the involvement of subspecialist
physicians or specialty nurses, and fewer reported genetic counselors or primary
care physicians. Some respondents commented that other staff are involved,
including nutritionists and social workers. Since the term "trained genetic
counselor" might have been interpreted differently by each respondent, we
asked about counselor background in a free-answer question. Of the 26 respondents
who answered this question, 20 respondents (77%) said they employed masters-level
trained genetic counselors, and 5 respondents (19%) reported nurses with special
training.
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Table 3. Professional Backgrounds of Counselors Reported by US Newborn
Screening Programs*
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COUNSELING SITES
We found that 19 (54%) of 35 respondents reported that counseling occurred
at one of a few1, 2, 3
closely affiliated sites, while 7 (20%) of 35 respondents reported counseling
at "numerous closely affiliated centers (4 or more)," and 3 (9%) of 35 reported
that counseling occurs "at many widely dispersed sites, not affiliated with
the newborn screening program." A few respondents added that the county health
departments helped provide counseling, and others mentioned toll-free telephone
numbers to reach the program with questions.
QUALITY AND ASSESSMENT OF COUNSELING OUTCOMES
Health service providers are subject to increasing pressure to document
their credentials and the quality of their work. Many respondents mentioned
that counseling providers were either officially certified, required to earn
continuing education credits, or both. Some said that they use national guidelines
to guide counseling most notably for sickle cell hemoglobinopathy (13/35 or
37%), but also for other conditions with less publicized guidelines (range,
2-11 or as high as 31%). Some respondents added that they have a separate
quality control committee for counseling, some of which perform regular site
visits of counseling services. When asked specifically, 7 (20%) of 35 respondents
reported using some type of systematic measure of quality or outcome. Of the
35 programs that routinely provide counseling, 7 (20%) assess client satisfaction,
and 3 (9%) have examined client's mastery of the information provided in counseling
sessions. Three respondents (9%) agreed that they "monitor and maintain a
database of future pregnancies and babies born to at-risk couples."
Since quality measurement of counseling is currently uncommon, we were
interested in learning about the perceptions of coordinators regarding the
quality of counseling as delivered by professionals with different backgrounds.
To standardize the question, we suggested that quality might reflect the counselor's
experience, training background, or their ability to communicate to parents,
and we asked the respondents to use a 5-point subjective scale (excellent,
good, neutral, fair, poor). The distribution of responses is shown in Figure 1, which reveals that the respondents
were more likely to rate primary care physi cians low, and the 3 specialty
professions (including nurse specialists) high. These differences are significant
both in comparison of simple means (P <.01) and
in a 2 comparison of categories (P
<.01).
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Respondent perceptions of counseling quality as delivered by different
types of professionals.
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PURPOSES OF COUNSELING
Given the variation in services, we were curious about the reasons why
programs provide counseling. To assess purposes intended, we supplied a list
of possible goals identified from the literature,23, 25
and asked each respondent to rate the importance of each. Table 4 summarizes these goals, categorized into education and advice
goals. As a whole, the respondents were strongly in favor of promoting an
understanding of inheritance and in sharing information with relatives. We
found that 19 (54%) of 35 of respondents rated as important the advice statement
to identify children who might be, "for genetic reasons, unsuitable choices
for future reproduction." This item, although worded to avoid a social desirability
effect, was meant to at least partially suggest a concern for fitness of affected
children to become parents themselves. There was less agreement on advising
about future pregnancies in parents, including planning and suggest options
for prenatal testing. There was a nonsignificant trend (2
test, P = .09) for respondents to rate as unimportant
the goal of understanding the difference between the affected homozygous children
and any heterozygote carriers.
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Table 4. Respondents' Perceived Education vs Advice Goals for Counseling
Parents*
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COMMENT
Many would agree that families should receive some sort of counseling
after positive newborn screening test results, but the best counseling practices
and venues are not yet clear. This survey revealed substantial variation in
communication services reported by US newborn screening programs. Some respondents
reported a centralized process for counseling, but varied widely on specific
practices and the professional backgrounds of counselors. In many states,
counseling of families is left to the infant's physician or perhaps not done
at all. Few programs arrange, or even recommend, counseling after false-positive
and trait results. The respondents said that primary care physicians were
responsible for much of false-positive counseling, but also said that the
quality of counseling delivered by primary care physicians was lower than
that delivered by other professionals. When asked about directive and nondirective
counseling techniques, responses were mixed. Some respondents said that they
often use directive counseling to advise against subsequent pregnancies, while
others are more nondirective and avoid definite recommendations about the
next pregnancy.
We were struck by the large number of respondents agreeing with the
statement about the "suitability for reproduction" of the patient. During
development of the survey, we included this quaint wording with the expectation
that most respondents would disagree with the phrasing reminiscent of eugenics.
The fact that so many respondents agreed does not necessarily suggest discriminatory
beliefs in the respondents, but it does reinforce the importance of further
study of counseling content.
Variation among the programs is not entirely surprising. Each program
was developed regionally in an autonomous fashion, often without best-practice
guidelines for laboratory testing or counseling and with limited communication
networks between programs. As a result, newborn screening programs tend to
reflect local politics and populations. For example, programs working with
large populations of African Americans have more experience counseling families
of infants with the sickle cell hemoglobinopathy trait. In contrast, trypsinogen
or DNA analysis for cystic fibrosis is a relatively new screening test,22 and few states have experience with it. Other sources
of variation include external resource constraints, local preferences, and
the individual creative projects of affiliated academic institutions.
Some believe that practice variation in health care should be eradicated,
but that would only be appropriate when optimal practices exist and are not
followed. As yet, the optimal practices for counseling after complex screening
test results are not known. For example, there are no data to support a preferred
professional background for counselors in newborn screening programs. The
shortage of genetic counselors suggests that other health care professionals
must also be involved.26 Counseling by primary
care physicians seems desirable but could be limited by lack of time, poor
understanding of genetics, and questionable counseling skills. Subspecialist
physicians may have a more specific knowledge base, but they are also limited
by time and counseling skills. Nurses and other providers may relate well
with patients and be cost-effective, but they may require special training
and supervision. These and other sources of variation may actually be a strength,
allowing comparison of the results or outcomes of counseling. Optimal counseling
quality could be defined by adherence to counseling practices known to be
effective and that result in high patient satisfaction, and by the degree
of autonomy in decision making desired by the patient.
The problem, of course, is that there is very little experience with
measuring counseling effectiveness, especially on a large scale. Methods for
more traditional measurement of quality of care are common in other areas
of modern health care, and have even been implemented in newborn screening
laboratories.27 In this study, however, we
identified only a few programs that evaluate their own counseling with satisfaction
surveys or assessment for mastery of counseled information. When asked about
quality assurance methods for counseling, some respondents described a certification
process and continuing education credits. Unfortunately, these may not necessarily
guarantee good counseling practices, particularly in complex tasks. The lack
of quality measurement may reflect a tradition where the highly educated are
assumed to be good teachers; only recently have health educators been subject
to the same scrutiny as other clinicians. This tradition may have to change.
Children can be inadvertently harmed by the efforts of newborn screening programs,
just as they can experience benefits. The potential for psychosocial harm
has been apparent for decades9 but there have
been only limited efforts to prevent problems such as the vulnerable child
syndrome. The introduction of outcomes measurement for counseling assessment
may not seem popular, but it will probably be necessary to ensure that newborn
screening tests have more benefit than harm.
Although some of our findings are striking, they should be interpreted
with caution. Our intention for this study was to provide a broad survey of
all practices on a national scale, and we are unable to comment on what happens
in an individual counseling session.28 The
results are based on the knowledge and opinions of the persons designated
as follow-up coordinators. It was obvious to us that some respondents had
a more detailed grasp of counseling practices than did other respondents.
Some seemed very confident in their answers, and attached materials to support
their point. Others admitted in comment sections that they were unsure if
their answers applied for their entire state. The analysis is only partially
limited by the low number of respondents, since only 6 of the entire national
complement of programs declined to participate in this survey.
Nevertheless, the lack of plans for measuring counseling quality and
the previously noted lack of coordination between programs2
are disconcerting because more complex screening tests are likely to appear,
either through the Human Genome Project17 or
via other technological advances.18, 20
If the counseling practices of newborn screening programs are optimized, these
programs may become the natural choice for providing advanced tests, given
their distinction as the nation's premier preventive public health program
for children. We believe that this study offers 3 implications to this emerging
issue. First, newborn screening programs that wish to have more effective
counseling in their state should consider closer ties with primary care physicians.
This may improve the quality of counseling in the office and may allow access
to families with concerns about test results. Second, we would consider diversity
among the programs to be an asset, but only when they share their best practices
with each other and with the academic community. In this way, improvements
may be disseminated widely, and collaborative research can advance understanding
of testing and counseling. Finally, the current lack of quality measurement
for communication services raises concerns about whether any best practices
will ever be identified.
We suggest future research that examines the efficient, effective provision
of counseling services and the development of new models for studying the
quality of risk communication with parents. For example, parental understanding
of newborn screening results may benefit from new approaches to counseling,
such as interactive computerized decision aids.29
A more widespread understanding of these and other counseling services could
help improve the lives of affected families and ensure enhanced excellence
in newborn screening programs. This agenda may prove critical to meeting the
challenges posed by new technologies introduced in the 21st century. Lack
of attention to enhancing the quality of newborn screening programs, especially
risk communication practices, will almost certainly lead to inadvertent psychosocial
harm. Although some efforts have already begun,27, 30
we believe that addressing issues of communication and potential harm should
have a higher priority and will require more effort by organized medicine,
especially the American Academy of Pediatrics, Elk Grove Village, Ill, and
the Centers for Disease Control and Prevention, Atlanta, Ga.
AUTHOR INFORMATION
Accepted for publication September 22, 2000.
This work was supported in part by grants DK 34108 and M01 RR03186 from
the National Institutes of Health and A001-5-01 from the Cystic Fibrosis Foundation,
Bethesda, Md (Dr P. M. Farrell).
This project was initiated while Michael H. Farrell, MD, was a Robert
Wood Johnson Clinical Scholar at the University of Michigan, Ann Arbor.
An earlier version of this article was presented at the annual meeting
of the Pediatric Academic Societies, San Francisco, Calif, May 1-4, 1999,
and summarized in abstract form (Pediatr Res. 1999;45:123A).
We are grateful for the participation of the newborn screening program
follow-up coordinators and the assistance of Lisa Wu, MD.
From the Departments of Pediatrics and Internal Medicine, Yale University
School of Medicine, New Haven, Conn (Dr M. H. Farrell); and the Department
of Pediatrics, University of Wisconsin, Madison (Ms Certain and Dr P. M. Farrell).
Corresponding author and reprints: Michael H. Farrell, MD, Internal
Medicine and Pediatrics Residency Program, Yale University School of Medicine,
333 Cedar St, Room LMP 1074, New Haven, CT 06520-8086 (e-mail: Michael.Farrell{at}yale.edu).
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Recommendations for Effective Newborn Screening Communication: Results of Focus Groups With Parents, Providers, and Experts
Davis et al.
Pediatrics 2006;117:S326-S340.
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Content of Communication by Pediatric Residents After Newborn Genetic Screening
Farrell et al.
Pediatrics 2005;116:1492-1498.
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Initially Misleading Communication of Carrier Results After Newborn Genetic Screening
La Pean and Farrell
Pediatrics 2005;116:1499-1505.
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What Follows Newborn Screening? An Evaluation of a Residential Education Program for Parents of Infants With Newly Diagnosed Cystic Fibrosis
Sawyer and Glazner
Pediatrics 2004;114:411-416.
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Is Public Health Ready for Genetics? An Unanswered Question
Cunningham et al.
Arch Pediatr Adolesc Med 2001;155:1175-1176.
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Early Diagnosis of Cystic Fibrosis
Grosse et al.
Pediatrics 2001;107:1492-1492.
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Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process
Ciske et al.
Pediatrics 2001;107:699-705.
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Is Public Health Ready for Genetics?
Holtzman
Arch Pediatr Adolesc Med 2001;155:117-118.
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