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Case Study 2: Ethical Implications of a Decision on MCADD Screening of Newborns

As Director of the State Health Department, John Jamison has responsibility for the state’s Newborn Screening Program, which currently screens every infant born in the state for six disorders, including phenylketonuria, hypothyroidism, and hemoglobinopathies. The state’s newborn screening program has had a quiet and respected history in the state up until now, unlike some other health department programs, such as the state cancer registry that was a recent focus of legislative hearings and a public outcry over privacy concerns.

The nurse practitioner who directs the newborn screening program, Sally Scott, has just reported that pressure is building for the addition of new testing for genetic disorders to the battery of required state screenings for newborns. Sally says pressure is coming from many sources, including individual parents, powerful advocacy groups within the state, and even some physicians. A coalition of these interested parties has just met with her and requested the state health department’s support for a bill to add a test for one particular disorder this legislative session – the test for Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). The group intends to issue a press release within two or three days and plans to publicize whether the state health department is supportive of the test.

Sally believes the test for MCADD is likely to garner more attention and support from the public and the press than other newborn screening tests, because MCADD increasingly has been mentioned as a potential cause of Sudden Infant Death Syndrome (SIDS).

Sally met with Jamison yesterday for guidance. She warned him that MCADD is just the latest, in what she believes is becoming a continuing and growing problem for the state health department regarding genetic screening for newborns. As director of newborn screening for the last five years, she has been receiving frequent inquiries about the possibility of expanded newborn genetic screening, both for particular disorders and for predisposing conditions.

Jamison asked Sally to get back to him today with as much relevant material as she can quickly find, so that they can review the data and discuss the options with the department’s epidemiologist, health policy analyst, and the Director of the Division of Maternal and Child Health.

At the meeting Sally presents the following information.

The State legislature, with guidance from the health department when appropriate, has the authority to establish newborn screening policies, including deciding which disorders should be included among the battery of newborn screening tests.

Currently parental consent is not required for the newborn screening tests in the state. All newborn screening tests are conducted by the state lab, which reportedly discards newborn blood samples after the initial testing.

The state newborn screening program provides follow-up notification of positive tests, counseling, and in some cases, state-provided treatment when newborn conditions are identified. These costs generally are not covered by health insurance.

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The annual cost of the newborn screening program in the state is now $2.5 million.

MCADD is a type of fatty oxidation disorder where an enzyme defect in the fatty acid metabolic pathway inhibits the body’s ability to utilize stored fat. Initial clinical presentation occurs from two months of age to two years, and has not been found in children post-adolescence. An initial event of MCADD is usually triggered by prolonged fasting, which can lead to vomiting, lethargy, coma, apnea, cardiopulmonary arrest, and sudden death. Up to 30 percent of initial events result in death and lead to a misdiagnosis of SIDS in up to 5 percent of cases. One recent publication suggested that up to 50% of infants with MCADD died as a result of their first acute episode and in these cases, MCADD was diagnosed postmortem.

Current data suggest that the incidence of MCADD varies in the U.S. between a homozygous prevalence (individuals presenting with MCADD) of between 1 in 6,400 to 1 in 20,000 and a heterozygous prevalence (asymptomatic carriers of MCADD) of 1 in 6,900. The newborn screening data from three other states that currently test for MCADD show a per year incidence that ranges from 0.0001 in one state to 0.00003 in another state. A routine blood sample drawn at time of birth and processed via a Tamden Mass Spectrometer (TMS) can reveal MCADD gene involvement. Follow-up testing can confirm diagnosis. The state laboratory, however, currently does not have equipment to conduct these tests.

Treatment: Some studies suggest that early detection and follow-up treatment that could be as simple as eliminating prolonged periods of infant fasting could be life saving. Recent studies suggest that intravenous infusion with 10% dextrose will generally cause rapid improvement after an acute event. Other treatment options such as 150 mg per day of L-carnitine or cornstarch mixed with liquid at bedtime could prevent acute events leading to hospitalization or death. L-carnitine treatment has been recommended for the first three years of life for MCADD patients with confirmed diagnoses.

Expected Outcome of the Newborn Screening Test: Given current estimates of incidence rates, screening all infants in the state could result in approximately 8-10 confirmed cases/year. An estimated 30-50% of patients with MCADD die within their first two years; so about 4 lives are projected to be saved per year in the state.

Approximate Costs of MCADD Screening

Given the state’s annual birth rate of over 100,000, two tandem mass spectrometers will need to be purchased for the state lab at a total cost of about $700,000. Annual operating costs for the systems would be about $50,000. Two additional lab specialists would cost about $80,000. Additional nursing time for assessment of laboratory results, follow-up, and outreach programs would cost between $75,000, which would not be covered by insurance.

A fee of $4.00/test would be added to the total cost of the current set of newborn screening tests, and would be billed to insurance carriers (this covers machine use cost, allowing for machine depreciation), for an additional annual screening cost of about $500,000. (This raises the annual cost of the state program to $3 million.)

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Follow up confirmation testing for identified newborns will cost about $6,000 a year. Treatment for MCADD for the 8-10 patients a year would cost about $2,500 total, much of which would be covered by insurance.

Without early detection of newborn screening and preventive treatment, approximately four MCADD patients in the state each year will be expected to experience acute episodes of undiagnosed MCADD resulting in hospitalization. Based on cost analysis from another state, the average acute episode results in a seven-day NICU stay and a seven-day pediatric ward stay, with a total cost of about $33,000 per episode. From a pure dollar outlay, adding this test will cost more to the state than the cost of treating those children with MCADD when they have acute events. This concludes Sally’s report.

Jamison thanks Sally, and turns to the other three professionals at the meeting for their reactions. The health policy analyst quickly responds, “Sally’s cautious approach to this question is well-founded because the issue of newborn genetic screening is potentially explosive. We cannot be in a position to go against the tide of these powerful advocacy groups, because they could create a media circus and undermine our position and support in the legislature on a number of important public health initiatives. This could result in cuts to our budget on critical issues -- on teen education for sexually transmitted diseases, for instance, and other public health programs that operate just below the public radar screen. As long as the newborn test is valid and preventive treatment is available, the health department must support the test and I think...”

The Director of the Division of Maternal and Child Health interrupts, “I disagree. My programs are significantly underfunded, and my staff overworked. I would like to initiate numerous new programs, some requiring far less money than this screening program. This new test will mean that I will have to reassign one or two of my staff nurses to run this program, which will require assessing the laboratory test results and following up with patients and physicians. Better funding of current programs or new programs we are planning for would result in saving the lives of many more than four newborns a year and additionally would result in a significant reduction in child and mother morbidity. I believe the health department should not be pressured into supporting particular programs without careful analysis of other potential uses of the funds.”

The epidemiologist concurred, “I believe we should do a study about this screening program, including assessing other uses for health department funds and also our own study of the intervention’s effectiveness, which is not clear to me. We might undertake a pilot test of the MCADD test and the preventive interventions. We could randomly screen a group of newborns in the state by sending their newborn blood samples to outside labs, and then divide positive babies into one of two groups: a treatment group who are given the L-carnitine for three years and a control group. This seems to me the only way to justify the program – with good science.” The health policy analysts shakes his head, “Would you tell the parents of the control group babies that their children might be at increased risk for a disease that kills? Would you get informed consent from parents in the pilot screening program?”

Jamison holds up his hand. “There seem to be numerous ethical questions arising in our discussion. Let’s explicitly address them. What are the ethical issues in this case as you see them and what are your positions?”

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Considering the Ethical Issues Involved in MCADD Screening

Assessing the Public Health Problem What is at stake in the current situation? Is public health department missing SIDS cases? How should the health department make decisions about the use of limited resources to benefit the public? Are there other concerns?

What role does the public have to play in this issue? Should there be public discussion? How could that discussion be elicited?

Are commercial interests at stake? Has the company that manufactures the TMS machine been involved in discussions to date? Should it be?

Who are all the stakeholders in this decision? Do any of the stakeholders have conflicts of interest? What are these? Do any have conflicts of obligation?

Are there issues of power involved in the ongoing debate? Where is the interface between public health and politics in this situation?

Is there money available to do the testing? What are the alternative uses to which it might be put? Are the MCADD advocates aware of those facts?

Advocacy Do the roles and duties of advocates of MCADD testing differ from the roles of health department staff? Should they be different?

Ethical Issues What specific ethical issues are involved in a decision to test (or not test) for MCADD? Specifically, what harms, risks and benefits may be involved for individual children, parents, other individuals and for the population at large?

If money is diverted from other possible lifesaving uses to MCADD testing, should the harms, risks and benefits of the other intervention not selected be taken into account?

What are the moral claims of the various stakeholders?

Are there any other ethical issues that might be involved?

Have any discussion of screening ethics occurred in the other states where MCADD testing is done? What were the considerations in those settings?

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Case Study 2: Discussion

Ethical Problems

This case study presents John Jamison, Director of the State Health Department and Sally Scott, who directs that state’s Newborn Screening program, with several dilemmas about how to respond to requests to take a position on the inclusion of an additional test in the state’s current newborn screening program.

Each is aware that three other states currently include MCADD screening for newborns, making the option of adding it a technically feasible one. They are aware of the test’s potential for saving the lives of several newborns in the state each year through use of the test. However, both are aware of other possible policy and ethical dilemmas.

First, although data are available from which to conduct a cost-benefit analysis, available data do not include any information on false negative or false positive screening tests. What information about false positive and false negative MCADD screening tests should be included in the direct cost-benefit figures?

Second, the source of funding for adding any new screening test is not obvious. While the actual costs of the laboratory tests will be covered by private insurance for those who have coverage, there still remains the significant costs for the health department to pay a staff nurse to interpret all of the laboratory results and do the followup, which insurance does not pay for. In addition, the state health department is responsible for the costs of the laboratory tests for the state’s uninsured population. If adding a new test required diversion of resources from other current state programs, resulting in fewer children benefiting from those other programs, should that lost benefit be included in the cost-benefit analysis?

Third, state employees are being pressed to support legislation to further the goals of one advocacy group, the MCADD screening lobby. How should Jamison and Scott decide what position to take with the MCADD test?

Relevant Values and Key Stakeholders in the Decision

In addressing this issue, Jamison must address the concerns of multiple stakeholders. Jamison is aware that different values lie behind the positions taken by various stakeholders, including his own staff. Advocates for MCADD screening, including perhaps parents of affected children, would like to totally eliminate morbidity and mortality related to MCADD. Advocates’ position seems to give priority to beneficence. In the name of autonomy, some persons would like to limit newborn screening programs to tests done with parental consent. Manufacturers of testing equipment would like to increase the market for their product(s).

Jamison is also aware that roles and duties of health department staff differ from the roles of MCADD advocates. State health department staff must be concerned with values of efficiency, e.g., cost per MCADD case detected, and utility. Health department staff, including Sally Scott, must also be concerned with non-maleficence and justice, since they have to balance the value of a new screening test with the opportunity costs of other programs that might have to be cut to allow inclusion of the MCADD test. Specifically, health department staff would appear to have a conflict of obligation

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between children/parents who might benefit from MCADD testing and children/parents who are beneficiaries of current programs that might have to be cut to allow MCADD screening.

Director Jamison has to include the concept of planning for an orderly decision process for this and future decisions. Finally, it is not yet clear what values might inform the responses of the state legislature, which will have to ultimately decide, based on Jamison’s recommendation and on lobbying pressure, whether the MCADD test should be included (and perhaps whether new funds to pay for it should be added.)

Necessary Information

In considering his decision, Jamison clearly needs objective information beyond the list of stakeholders and their values. The costs of MCADD screening (in equipment, staffing, etc.) and the benefits in terms of cases detected and lives saved are a starting point. In addition to the information already available, these data should include the frequency of false positive and false negative MCADD screening results. State health department staff is the best initial source for such information although information from manufacturers and from the coalition could also be reviewed. Similarly, if funds to pay for MCADD screening are not currently available, the opportunity costs of other programs to be cut must be included in the information. Specifically, what are the options for internal redirection of funds are what would be the program impacts of such redirection? Should the impact on other public health programs be made public, so that other stakeholders who may be adversely affected can take a position?

Jamison is also interested in knowing the position of the American Academy of Pediatrics (and its state affiliate chapter) on MCADD screening. He would also like to know more about how MCADD decisions were made in the states where its use has been discussed. (These states include not only the three states where MCADD testing was included but also any states where decision were made to not include MCADD testing.)

Finally, Jamison could consider discussing the MCADD screening issue with members of the legislature who ultimately would be making the key decisions about the testing program.

Available Options

In considering any recommendation to the legislature, Jamison must consider each of the several options available:

Do not add MCADD screening at this moment. Cost-benefit analysis may support this position in that costs for treating children with MCADD may be less than screening costs. (Note: This does not take into account the deaths.)

Defer a decision while collecting additional information through additional study of MCADD testing.

Add MCADD screening using current resources (Some other activity or program has to be cut to cover the health department’s costs of nursing staff assigned to this program.)

Add MCADD screening once new resources can be identified. This approach could perhaps include a form of partnership with the coalition.

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Consider a more comprehensive review of the state’s approach to newborn screening: Because of Sally Scott’s sense that more new screening tests and more advocacy will becoming in the near future, Jamison and Scott could also consider an option of asking for a review of state newborn screening policy. Outside experts in various fields could inform both the MCADD decision as well provide recommendations for how the state should approach the issue of considering other new newborn screening tests as the come along.

Process for Arriving at a Decision

In addition to discussions with his own staff, Jamison should be sure that he and his staff have heard from as many of the stakeholders as possible. Specifically, meeting with representative of the advocacy coalition can help inform his position. That discussion could include the issues and values at stake as well as options for moving toward consensus on an approach to adding a new test. During this meeting, in addition to hearing the coalition’s perspective, a process of compromise could be discussed.

Jamison might also consider holding a public hearing on the MCADD issue either through the state health department or jointly with the state legislature.

Questions about options

What ethical justifications support each of the options, i.e., to support MCADD now? to not support MCADD but use funds elsewhere? to study the issue further? to partner with advocacy group to raise external funds for MCADD testing?

What is the appropriate role for the State Health Department in resolution of this issue?

What roles could the State Health Director play in the resolution of this issue?

Would a legal opinion from the department’s legal counsel be helpful in resolving this issue?

Would having the State Health Department proactively bring this issue to the legislature be helpful?

Would an external ethics consultation be helpful?