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Providing Services for Families With a Genetic Condition: A Contrast Between Cystic Fibrosis and Down Syndrome

Murdoch Childrens Research Institute Department of Paediatrics University of Melbourne Royal Children’s Hospital Melbourne VIC 3052, Australia

Abbreviations: CF, cystic fibrosis

The Human Genome Project now allows tests to be offered to the community for many genetic conditions at birth, before or during pregnancy, or as a screen for risk of disease. Some of these tests are provided to all infants at birth (such as for phenylketonuria and cystic fibrosis [CF]), while other genetic conditions are ascertained clinically at birth or soon after (such as Down syndrome). The scope of newborn screening is expanding, and many programs now test for a larger number of conditions, raising the issue of follow-up services for children and their families. Testing at birth for CF is now offered for all children born in Australia and is becoming increasingly common in the United States.

The services available to families with a child born with a genetic condition are determined by many factors, including the type of genetic condition and its frequency, the medical needs of the child, and available resources. Models of service delivery also impact on the extent and type of services provided. Conditions diagnosed through a population-wide newborn screening program may have follow-up services embedded within the program, at least for the immediate period after diagnosis. Conditions diagnosed in a more ad hoc way may not have comprehensive services provided for the child and the family. Other factors impacting on genetic services that may be equally important, but are more difficult to quantify, relate to community attitudes to particular genetic conditions, or to disability generally, and the capacity of interested parties to lobby for services.

During the past decade prenatal testing programs have expanded. More conditions can be detected, and the proportion of the population to whom tests are available has increased. Prenatal tests such as ultrasound and maternal serum screening are now offered to pregnant women on a routine basis to determine the risk of Down syndrome and neural tube defects. Prenatal diagnosis of many conditions is offered to couples known to be at increased risk through family history or ethnicity. If couples are to have a balanced choice between ending a pregnancy or having a child who will need special medical and educational services, it is important to ask whether the services available are optimal and, if not, how they can be improved?

Many common genetic conditions occur in families with no previous family history or experience of the disorder. In the case of CF, there are approximately 200 000 carriers in the State of Victoria, Australia (population 5 million with 64 000 births annually), and 20 new cases are born each year, most with no family history. Down syndrome is the most common chromosomal abnormality, affecting about 60 live births per year in Victoria.¹

The needs of parents of children diagnosed with a genetic condition will vary according to the diagnosis and the health of the child as well as the individual circumstances of the family, including emotional and physical resources. On average, families with a child with a disability experience greater levels of stress and dysfunction than other families,^2,3 and evidence indicates that services are perceived by a number of parents of children with a disability as not meeting their needs.⁴ Accessible services and support from professionals and the community^4,5 can have a positive impact on parental coping and adjustment after the birth of a child with a genetic condition. Disclosure of a diagnosis of disability in a child does not always result in parental dissatisfaction,⁶ and parents can differentiate their feelings about the diagnosis from how the diagnosis was given.⁷ Most importantly, parents can, in turn, offer advice to professionals about the needs of families for specific and general services.

	GENETIC SERVICES IN VICTORIA

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In Victoria, there is a centrally organized clinical genetic service available free of charge to all families where an individual has, or is at risk of, a genetic condition. However, referrals for a genetic consultation are not consistent for different conditions. Victoria’s newborn screening program was one of the first to include testing for CF and this has been in place since 1989. Nearly all cases of CF are now diagnosed through newborn screening,⁸ and follow-up is provided in the form of a week-long parent education program that includes medical and genetic information and discusses availability of both medical and community support.

For families with a child with Down syndrome, there is no routine referral at diagnosis for genetic counseling or other services. Parents are dependent on the advice of their pediatricians, or they seek out information and services for themselves. The voluntary Down Syndrome Association of Victoria offers a support and information service for parents, but it has no formal mechanism to access parents. In any case, the association does not have the resources to provide help for the families of all children born with Down syndrome in Victoria.

	SURVEY OF FAMILIES

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To ascertain the experiences of families faced with these very different models of service delivery, we surveyed families who had a child with either Down syndrome or CF born during 1995–1996 in Victoria. Details of the study design for the families with children affected by Down syndrome are published elsewhere⁹ and similar methods were used to survey families with children affected by CF. The Royal Children’s Hospital Human Research Ethics Committee granted ethics approval for the study. Data were collected by mailed questionnaire during 1998–2000, when children were between 2 and 4 years of age. Mothers of 74 children with Down syndrome and 23 mothers of a child with CF responded to the survey (70% and 77% of those eligible, respectively). At the time of completing the questionnaire, the mean age of mothers was 36 years (range: 23–48 years) for those with a child with Down syndrome and 31 years (range: 24–39 years) for mothers of a child with CF (t = 3.6; P < .001), reflecting the older age of mothers giving birth to children with Down syndrome. Two of the children with Down syndrome were diagnosed prenatally and all other diagnoses were made at or after birth.

Satisfaction with care and information provided at the time of diagnosis of Down syndrome or CF was measured using 5-point Likert scales ranging from 1 ("not at all satisfied") to 5 ("very satisfied") in response to the question: "Overall, are you satisfied with the care you were given (care was replaced by information in the second question) at the time of the diagnosis of your child with Down syndrome/CF?". Participants were asked to make written comments on why they chose particular levels of satisfaction and these were analyzed using content analysis.¹⁰ Slightly <50% of mothers of a child with Down syndrome indicated they were satisfied with the care they received (they chose 4 or 5 on the scale) compared with 75% of mothers of a child with CF (² = 4.3; P = .04). A similar pattern was seen for satisfaction with information received at the diagnosis, with <50% of mothers of children with Down syndrome compared with almost 80% of mothers with children with CF indicating they were satisfied (² = 4.4; P = .02).

For mothers with a child with Down syndrome, the main factors associated with satisfaction were whether the health professionals were well-informed about Down syndrome, and whether they were caring, supportive, and understanding of the impact of the diagnosis. Some mothers were dissatisfied that professionals appeared embarrassed or awkward about the diagnosis. There was appreciation when doctors were frank and open, but concentrating on the negative aspects of Down syndrome was not helpful. Other parents expressed the desire for referrals to other support services and for provision of good, up-to-date information. Nearly 20% of those who made comments indicated that little or no information was provided at diagnosis.

Mothers of children with CF were less likely to mention an absence of support and understanding, and emphasized the expertise of the "CF team". For those who were "not satisfied," the comments related to being given a diagnosis over the phone, a delay between being given the diagnosis and attending the "parent education week," and confusion about laboratory test results. Parents acknowledged that there was a lot of information to take in at the time but that it could be managed. The negative comments from parents of children with CF appeared to relate to less serious issues than the negative comments from parents of children with Down syndrome.

There are some potential limitations of data collected retrospectively by parent report. The time from diagnosis to this survey ranged from 2 to 4 years and parents might have had difficulty recalling the details of the diagnosis. However, it has been shown that when parents receive a diagnosis of a serious condition in their child, recall can be quite accurate over a long period of time.¹¹ If mothers did have some difficulty in recalling details of the time of diagnosis, this is unlikely to be different for mothers of children with Down syndrome compared with those with children with CF, and should not have resulted in bias when comparing the 2 groups.

	IMPLICATIONS OF SURVEY FINDINGS FOR SERVICE PROVISION

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The survey findings have implications for the planning of genetic services. Despite some controversy over the benefits and harms of newborn screening for CF, many states in the US are now introducing CF testing into newborn screening programs. In August 2000 the American Academy of Pediatrics Newborn Screening Task Force issued a report with recommendations to strengthen existing and to plan future newborn screening programs.¹² One of the key recommendations was the need for medical practitioners to act in a coordinating role to ensure that the child and family receive the care and support needed after a diagnosis has been made. As screening for CF has been a part of newborn screening programs in several states in Australia for over a decade, experience from the established follow-up programs for children with CF and their families can provide guidance on how this recommendation might be addressed.

In Victoria, all parents of a child diagnosed with CF are offered, and most attend, a free intensive week-long residential course, coordinated by the Department of Respiratory Medicine at a major pediatric hospital with the involvement of genetic services. The course covers the management of clinical symptoms, information on the genetics of CF including recurrence risks and reproductive options, and psychosocial aspects of having a child with CF. Parents become familiar with the professionals they are likely to have contact with for the care of their child and for reproductive planning. They learn about the roles of the general practitioner, the community nurse, the hospital consultant in respiratory medicine and gastroenterology, and the geneticist. All CF clinical services at this hospital include bacteriologic screening for infection status to ensure cross-infection is minimized.¹³

In contrast to the well-coordinated services for CF, the information and support provided to parents of children with Down syndrome is not structured and the services they come into contact with depend on the commitment and skill of the person who gives the initial information. The comments referred to above reflect the varied experiences of parents after diagnosis. Some reported very supportive health professionals and good information, while others felt they were left to their own devices. In another survey question, about 50% of parents indicated they were involved with the Down Syndrome Association, and for many it was their main source of information and support, not medical or genetic services.

Why are the services for CF so much more comprehensive than for Down syndrome? As discussed above, any newborn screening program should ensure that medical follow-up and information are provided for infants diagnosed through the program. The CF service in Victoria has a system of follow-up and coordination between the medical and genetic services.⁸ Active intervention from an early age is deemed beneficial for those with CF from a medical perspective,⁸ and one pediatric hospital provides most of the care for children with CF in the state. After a child has been diagnosed with CF, there is a high recurrence risk for the next pregnancy (25%) and prenatal testing for the couple, and carrier screening for other family members are readily available. Appropriate follow-up therefore includes genetic counseling as a priority.

For Down syndrome, many children have serious medical problems requiring early surgical intervention, but others do not require immediate medical care.¹⁴ In the absence of a pressing medical problem, Down syndrome can be seen more as a social or educational issue and outside the area of responsibility of medical services. The risk of Down syndrome in subsequent pregnancies is likely to be small (on the order of 1%), although risk increases with maternal age. Prenatal tests for Down syndrome are widely available, such that reproductive issues might not be thought to require special attention. However, genetic counseling can be helpful with providing the latest information on Down syndrome and prenatal testing and, importantly, with coming to terms with the diagnosis.⁹

There have been marked improvements in medical care for CF. Life expectancy is longer and parents expect that their children with CF will live healthier lives and may have children of their own.¹⁵ Professionals view CF more optimistically than Down syndrome^16,17 although many children with Down syndrome also lead healthier lives than before.¹⁴ Doctors feel they have more to offer medically to the child with CF, and although attitudes have changed from the time when institutionalization was recommended,¹⁸ the professional view of Down syndrome is more negative than that of parents.¹⁹ CF is a physical condition while Down syndrome is primarily an intellectual disability, and although attitudes may be more enlightened than in the past, society still attaches a stigma to intellectual impairment. It is therefore not surprising that resources are more focused on a condition that is considered to have more potential for intervention.

	A COORDINATED SERVICE FOR DOWN SYNDROME?

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It is clear that many benefits flow from the structured service offered to those with a newly diagnosed child with CF. A similar program might be beneficial to meeting the varied needs of families with a child with Down syndrome. In contrast to the newborn screening program for CF, the diagnosis of a child with Down syndrome occurs in many settings involving many different health professionals and requires a system whereby families could be linked to a coordinated service. There are many community services for families with a child with a disability, along with active voluntary support groups. It is important that any service providing medical or genetic care or information should coordinate with community services already in existence, as it is clear that families often do not know about services or how to obtain them.⁹

There are some models for service provision that could be considered in planning a service for families with a child with Down syndrome. The concept of a "medical home" is one that has been proposed for follow-up and management of children diagnosed through newborn screening¹² and could also be useful for children with Down syndrome. In this model, the pediatrician or other primary care physician works in partnership with the child’s family to ensure that all medical, psychosocial, and educational needs of the child are met in the local community.²⁰ Depending on the local situation, the coordinating role could be assumed by a pediatrician or a general practitioner. This already happens to a certain extent, but evidence indicates much inconsistency in the extent of the physician’s involvement with the family. For this model to be effective, the physician needs to know what services are available and how to access them. This would require professional training to help with the coordinating task.

Another model that has been successfully initiated in the United States is a dedicated Down syndrome clinic that does not replace but supplements the role of the primary care physician and can be used as a resource by the doctor and the family.²¹ Similar to the Victorian CF service, the multidisciplinary clinic caters for all aspects of the care of a child with Down syndrome.

Although the numbers of affected children are decreasing, there will always be infants born with Down syndrome, CF, and other genetic conditions even if universal prenatal screening is available. Some women will choose to decline testing²² or will continue a pregnancy after prenatal diagnosis, while others will fail to be tested because it is not offered to them. With the expansion of newborn screening programs, the question of follow-up services for those diagnosed with various conditions in the newborn period is also pertinent. It is important that a society that values individual choice and personal freedom ensures that the best clinical support, education, and psychosocial services are available to families who have a child with Down syndrome, CF, or other genetic conditions. In Victoria we believe that this need is met well for CF through an intensive course and dedicated service, and increasingly through dedicated clinics for other conditions such as Friedreich’s ataxia and bone dysplasias. We propose that the initiation of an intensive course for families and the provision of dedicated clinical services should be considered in the provision of newborn screening for any relatively common clinical condition. This is one way to ensure that we are not just paying lip service to the principle of supporting parental choice.

	ACKNOWLEDGMENTS

 
We thank the families who generously gave their time to participate in the survey; the staff of Genetic Health Services Victoria, particularly Margaret Ross; the Down Syndrome Association of Victoria for help with recruitment; and Jane Halliday, Angela Stefani, Agnes Bankier, and Lisette Curnow for helpful comments.

	FOOTNOTES

 
Received for publication Apr 28, 2003; Accepted Jun 23, 2003.

Address correspondence to Veronica Collins, MSc, Genetic Epidemiology Unit, Murdoch Childrens Research Institute, 10th Floor, Royal Children’s Hospital, Flemington Rd, Parkville, VIC 3052 Australia. E-mail: collinsv{at}cryptic.rch.unimelb.edu.au

	REFERENCES

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