PEDIATRICS (ISSN 0031 4005). Copyright © 1989 by the American Academy of Pediatrics.
ISSUES
TO
BE
CONSIDERED
Overview
of Legal
Issues
Lori B. Andrews, JD
From the American Bar Foundation, Chicago
The main purpose of screening is to identify infants with sickle cell anemia so that appropriate health care might be given to such infants. The
following four types of legal issues will be consid-ered: the extent to which existing state newborn
screening laws can accommodate sickle cell anemia, the malpractice concerns related to sickle cell ane-mia screening, the need for protection of the con-fidentiality of the data collected by such testing, and the legal issues raised by discrimination against sickle cell carriers.
These legal issues cannot be considered in a vacuum, however. Attention must be given to the history of sickle cell screening laws in this country. When state laws mandating sickle cell anemia
screening were passed in the early 1970s, they were aimed at giving people information that was helpful for making reproductive choices. Two carriers who were married, for example, had a 25% risk of giving birth to a child with sickle cell anemia. However, because there were no health care measures that could be taken to cure an affected fetus or even to
safely diagnose the condition prenatally, the only potential effect of the law was to deter such couples
from having children altogether, a tactic criticized as genocidal. Moreover, the early laws lacked pro-visions for counseling and, thus, fostered misunder-standing and anxiety. The information collected by screening programs apparently also served as a
basis for discrimination against people with sickle cell trait.
The issues presented by sickle cell anemia
screen-ing of newborns are somewhat different because screening is not for the primary purpose of changing reproductive behavior but rather to identify infants who then can be treated. However, even in this context, there are concerns regarding counseling,
education, and the appropriate handling of infor-mation collected by the program.
STATE NEWBORN SCREENING LAWS AND
FEDERAL LEGISLATIVE INITIATIVES
According to a 1985 survey I conducted,’ 48 states
have laws governing newborn screening in general
for inborn errors of metabolism. Most states make some provision for parental refusal. The statutes of three jurisdictions (the District of Columbia,
Mary-land, and North Carolina) clearly provide that
new-born screening is voluntary. In 31 states, the test
may be refused on religious grounds. In seven states, parents may object to the test for any reason.
The statutes of two states allow both parental and
religious objections. In only five states (Arkansas,
Iowa, Michigan, Montana, and West Virginia) is
the screening mandatory with no provision for
pa-rental objection or refusal based on religious
grounds.
The language of some of the newborn screening
statutes is broad enough to allow state departments
of health to undertake sickle cell screening of
in-fants. In four states, for example, the newborn screening statutes authorize screening for heritable
disorders or other handicapping conditions as the department sees fit. If sickle cell anemia screening is undertaken in these states under the general
authorization for newborn screening, it will be
sub-ject to the same statutory requirements as screening for metabolic disorders. In one of those four states, there is an exemption allowing for parental refusal
on religious grounds. In two states, parents may
refuse newborn screening on any grounds.
The statutes or regulations of seven additional
states explicitly name sickle cell anemia as a screened-for disorder in a newborn program. The
other newborn screening rules for the state
gener-ally apply, with provisions for parental refusal
recognizes the sensitive nature of sickle cell anemia screening. Although it makes other newborn screening mandatory with a religious exception, it provides that sickle cell anemia screening is strictly voluntary.
The issue of targeting infants to be tested is
specifically addressed in Georgia, which limits
new-born sickle cell testing to infants at risk for having sickle cell anemia. In newborn screening programs
for sickle cell anemia without such a provision,
presumably all newborns must be tested for the
disorder, even though the incidence of the trait and
the disease is much higher among blacks.
In addition to the newborn screening statutes,
other state statutes lay the groundwork for general
sickle cell anemia screening programs, not neces-sarily limited to newborns. Some statutes give the health department general authority to develop and
operate sickle cell anemia programs, such as
pro-grams for diagnosis, care, and treatment of affected children and adults. In one state, sickle cell screen-ing and education programs are the responsibility of a birth defects institute. In an additional state,
a council on sickle cell anemia is established to
assess the need for programs, research, centers, and
organizations targeted to this disorder. That same
state authorizes pilot programs for education, vol-untary testing, and counseling for persons with sickle cell anemia. In other states, laws giving an
administrative agency or commission authority to
conduct programs regarding hereditary disorders
would allow for the establishment of sickle cell
anemia programs.
A number of states also have provisions for sickle
cell services beyond testing, including research,
counseling, and the establishment of programs for
the care of people with sickle cell disease.
The quality of practitioners involved in sickle cell
anemia care is of legislative concern in at least two
states. Louisiana requires that its sickle cell anemia clinics provide training for physicians and medical
students. In North Carolina, sickle cell anemia counseling may be done only by persons who are
adequately trained and certified practitioners.
Ad-ditional states provide for the education of health
care practitioners about sickle cell trait and sickle cell anemia. Others provide for more general edu-cation of both practitioners and the public.
At the federal level, the Secretary of US
Depart-ment of Health and Human Services is required to
establish, within the Public Health Service, a
pro-gram for voluntary testing, diagnosis, counseling,
and treatment of individuals for genetic diseases.
The Secretary may make grants for research,
dem-onstration projects, educational programs, and
counseling and testing programs for genetic
dis-eases. In doing so, the Secretary shall give priority to research concerning sickle cell anemia. In addi-tion, the administrator of the Veterans Administra-tion is “authorized to carry out a comprehensive program of providing sickle cell anemia screening, counseling, treatment, and information.”
Partici-pation in the program shall be wholly voluntary,
and the records shall be confidential.
Thus, there is an extensive legislative foundation
for governmentally sponsored sickle cell anemia
screening. If the legislature establishes a program
for sickle cell screening and treatment, people
within the population whom such a program was
supposed to benefit can bring suit to require that the screening and treatment be undertaken.
If screening of newborns is undertaken by state
departments of public health, consideration should
be given to making that screening voluntary (as is
federal sickle cell screening). The President’s Com-mission for the Study of Ethical Problems in
Med-icine and Biomedical and Behavioral Research
ad-vocated that screening should be voluntary unless
it appeared that the number of refusals was high
and the number of affected children and
undi-agnosed disease was high.2 However, research
sug-gests that, even when a newborn screening program is completely voluntary and parents may refuse for any reason, the actual refusal rate is low, approxi-mately 0.05% (27 of 50,000 mothers).3 In addition,
because a voluntary program requires the informed
consent of parents, the voluntary program adds a
check on the procedure. If parents are told about
screening, agree to it, but then notice that the
screening has not been done, they can take action
to ensure that the baby is screened. Thus, more infants may actually be screened under a voluntary
program than a mandatory one if parents
acknowl-edge when their infants inadvertently are not
screened. Moreover, informing parents provides a
means of educating them about the distinctions
between sickle cell anemia and sickle cell trait and
could contribute to better understanding of the
nature of the disease, its diagnosis, and its treat-ment.
Although opponents of voluntary screening
as-sume that fewer infants will be screened under that
approach than with mandatory screening, that is
not necessarily the case. In a 1979 study, the
per-centage of newborns screened was calculated for
each of 12 states.4 The two states with the highest
percentage of newborns screened (98%) were
Mary-land, which has a voluntary program, and New
Hampshire, which allows parents to refuse
screen-ing for any reason. The other ten states, which all
have mandatory programs that require all infants
the religious exemption, had lower percentages of newborns screened. In one of these states, the
pro-portion of newborns screened was only 58%.
MALPRACTICE CONCERNS RELATED TO
SICKLE CELL ANEMIA SCREENING
The existing newborn screening programs for such disorders as phenylketonuria and congenital hypothyroidism have provided demonstrable bene-fits. Nevertheless, some missed cases have occurred, leading to malpractice suits against public health
screening programs. The potential for large verdicts in such cases has caused some public health
pro-grams to consider abolishing their newborn screen-ing programs. The same issues are raised by sickle cell anemia screening. Parents have received mon-etary settlements for malpractice suits when health
care practitioners failed to diagnose their child’s
sickle cell anemia.5 Such precedents provide the foundation for suits by parents against public health departments. However, a close analysis of past missed cases in screening programs indicates
that there are policies and practices that can be
adopted by newborn screening programs to lessen
the potential for negligence (and, consequently, lessen the potential for expensive lawsuits).
Researchers at the Centers for Disease Control
conducted a study6 to assess the causes of missed
cases of inborn errors of metabolism since the ad-vent of the newborn screening programs in the states 20 years ago. They found that the staffs of
newborn screening programs in the states were
aware of 74 missed cases of inborn errors of metab-olism. Of these, 44 were cases of phenylketonuria
and 30 were congenital hypothyroidism cases. The
point in the process in which the error occurred
was identified for 44 of the 74 missed cases.
Of the 44 identifiable errors resulting in missed
cases, 14 occurred at the specimen collection stage
(including eight cases for which no first specimen
was ever received and thus a child with disease was missed). Because the potential for errors seems most prevalent at the specimen collection stage, it is important for newborn screening programs to identify the individuals who have the primary re-sponsibility for ensuring that a specimen is actually
obtained from each newborn and to ensure that
samples are obtained in unusual circumstances, such as when the child is born prematurely,
dis-charged early, segregated in a special nursery, or
transferred to a second health care facility.
Current laws and departmental guidelines fall short of these goals, however. For example, many states do not have provisions for the collection of a
sample with respect to an out-of-hospital birth.
About half the states have provisions for early
discharge; most of these provide for a retest if the
sampling is done before 24 hours of age. Only eight
states have provisions for sampling infants who
need to be transferred. These regulations assign
responsibility to either the first or the second insti-tution, depending generally on the date the transfer
occurs. For example, in some states if the infant is
not transferred until after five days of age, the first institution has the responsibility for sampling.
Six-teen states have time frames for sampling
prema-ture infants, and 15 states provide for sampling sick
infants.
Missed cases can obviously occur if the samples
are not sent to the laboratory in a timely manner.
Some hospitals save newborn screening samples in
batches and mail them to the laboratory only once
a week or, worse yet, once a month. Some states by
statute or regulation try to ensure that infants are
screened, diagnosed, and treated in a timely manner
by specifying the time by which various activities must occur. For example, some specify the period
in which samples must be sent to the laboratory,
ranging from the same day to within 72 hours.
Others specify the period during which samples
must be analyzed, generally ranging from three to
ten days. Others specify that laboratories must
report within a certain time ranging from one day
to 2 weeks but that a final diagnosis must be made
during a particular period, for example 14 days.
Other states set a time limit during which the entire
process must take place. In Indiana, the screening
test and all follow-up confirmatory and diagnostic tests must be accomplished early enough so that
therapy, when indicated, can be initiated no later
than 21 days of age. Time limits in a program can
be an important way of ensuring that the program
meets its ultimate goal of treating affected infants early enough to make a difference.
Even when testing is adequately accomplished in
a timely manner, the health care goals of a
screen-ing program may not be realized if reporting and
follow-up are inadequate. The statutes and
regula-tions include little information regarding how
pos-itive screening results should be reported, other
than to specify to whom results should be given.
This is the physician in 27 states, the hospital in 14 states, the family in 12 states, the department
of health in 28 states, a particularly designated
physician in one state, and the submitter of the test in four states. The nature of an appropriate
follow-up is inadequately addressed by current laws and
guidelines. Moreover, only a minority of states, 13,
USE
OF INFORMATION
OBTAINED
FROM
TESTING: DISCLOSURE, CONFIDENTIALITY,
AND PROHIBITIONS ON DISCRIMINATION
The testing of infants for sickle cell anemia also
raises issues regarding what uses will be made of
the information. An initial question is whether
parents will be informed if their child is a carrier of sickle cell anemia rather than an affected child.
On the one hand, the rationale for the screening is
to treat affected infants, which might be used to
argue against disclosure. On the other hand,
be-cause the information about carrier status is now
in the hands of the health care professional, there
arguably is a responsibility to disclose it because it might be relevant to the couple’s future childbear-ing plans. (For example, it indicates the possibility
that both are carriers and that a future child may
be affected.)
Beyond disclosure of the screening results to
parents, disclosure to other parties should be
lim-ited. Some state laws governing the collection of
genetic information, such as some newborn
screen-ing laws or birth defects registries’ laws, have spe-cific provisions to attempt to protect
confidential-ity. Nine states by statute and three others by
regulations or guidelines establish registries. In six of these states, there are provisions to ensure that the information in the registries is confidential. Beyond the provisions for confidentiality of registry
information, 11 states have broader provisions for
the confidentiality of information obtained in
ge-netics programs. Additionally, state laws governing privacy of medical records generally serve to protect genetic information.
Some laws protecting the privacy of genetic or
general health care information have special
pro-visions providing for compensation to patients
when confidentiality is breached. The Rhode Island
law, for example, provides that a patient may collect
actual and exemplary damages, and at the
discre-tion of the court, attorneys fees may be awarded
when a health care professional breaches
confiden-tiality. Under the Utah Information Practices Act,
if state officials improperly and intentionally
dis-close health care information, the patient can get
exemplary damages of $100 to $1,000. Even if a
state law does not specifically mention
compensa-tion for the patient, the existence of the statutes could serve as the basis for a private lawsuit claim-ing a breach of confidentiality.
In addition to the limited statutory protections, courts now recognize causes of action against
phy-sicians for breaches of confidentiality on several
grounds: breach of contract, violation of privacy,
malpractice, and breach of fiduciary duty. They
could also recognize a cause of action based on
interference with contractual relations or infliction of emotional distress.
Beyond the potential for a lawsuit against the
health care professional, health care institution, or
public health department when confidentiality is
breached, few states provide any legal mechanisms
to ensure that stigmatization and discrimination do
not occur if the results of an individual’s sickle cell
screening tests are disclosed. The statutes dealing
with sickle cell anemia rarely reach the issue of
discrimination against individuals having sickle cell
trait. Two states, however, prohibit denying an
individual life insurance or disability insurance or
charging a higher premium solely because the
in-dividual has sickle cell trait.
Florida additionally has a law prohibiting
man-datory sickle cell trait screening as a condition for employment, for admission to educational
institu-tions, or to determine eligibility for adoption.
An-other Florida statute prohibits discrimination in
employment against people with sickle cell trait.
Similarly, a New Jersey law prohibits employment
discrimination based on an “atypical cellular blood
type.” Louisiana has the most extensive law of this
type, prohibiting employers and employment
agen-dies from discriminating against individuals with
sickle cell trait. The law also prohibits employers from limiting, segregating, or classifying sickle cell
carriers in any way that would tend to deprive the
individual of employment opportunities or would
otherwise adversely affect his or her status as an employee.
Discrimination by unions is also ofconcern under
the Louisiana law. The statute prohibits a labor
organization from excluding or expelling
individ-uals or otherwise discriminating against them
be-cause of sickle cell trait; or from limiting, classify-ing, or segregating its membership or failing to refer
a member for a job because of sickle cell trait; or
from attempting to cause an employer to
discrimi-nate. The Louisiana law specifically provides that
individuals with sickle cell trait can bring civil suits
against employers or labor organizations to
effec-tuate the purposes of the antidiscrimination laws.
REFERENCES
1. Andrews L: State Laws and Regulationa Governing Newborn Screening. Chicago, American bar Foundation, 1985 2. President’s Commission for the Study of Ethical Problems
in Medicine and Biomedical and Behavioral Research:
Screening and Counselingfor Genetic Condition: The Ethica4
Social, and Legal Implications of Genetic Screening, Coun-seling and Education Programs, 1983.
J Public Health 1982;72:1347-1350
4. Sepe M, Levy R, Mount T: An evaluation of routine follow-up blood screening of infants for phenylketonuria. N EngI J Med 1979:300:606-609
5. Sutherland v City of New York, 1O7AD 2d 568, 483. NYS 2d 307 (1 Dept, 1985), Aff’d 66 NY 2d 800, 497 NYS 2d 406,
488 NE 2d 837 (NY App Div 1985)
