MEDICAL CARE

Genetic counseling jbr congenital heart disease The genetic knowledge of parents of children with congenital heart disease, who had received genetic counseling, was compared with that of a control noncounseled group attending the same cardiac clinic. A follow-up questionnaire showed that both groups had excellent knowledge of the nature of their children's heart lesions. The counseled group had significantly more accurate knowledge o f their recurrence risks. lnasmuch as the reproductive attitudes of some of these parents were found to be influenced by genetic information, pare~tts of children with CHD should be given a better understanding of recurrence risks for CHD than many o f them possess.

Katherine H. Halloran, M.D., Y. Edward Hsia, B.M., M.R.C.P.,* and Leon E. Rosenberg, M . D . , N e w H a v e n , C o n n .

A GENETIC COMPONENT in the etiology of congenital heart disease is well recognized, resulting in predictable recurrence risks of 2% to 5% for the more common defects after a family has had one affected child> 2 Reiss and Menashe a have suggested that parents of affected children usually are not familiar with these recurrence risks for CHD and that even when this information is given to them, it is poorly retained. In a pediatric cardiac clinic where this genetic information is generally included in explanations to parents of their child's problems, we have assessed the effect of an additional brief genetic counseling session, in a small controlled comparison survey. This study was designed to ask the following: whether parents of children with CHD needed more genetic information than they were receiving; whether a brief genetic counseling session was an effective means of conveying this information; whether the information influenced the reproductive attitudes of these parents; From the Departments of Human Genetics and Pediatrics, Yale University School of Medicine. Supported by a Training Grant from the National Institutes of Child Health and Human Development (HD 00198), by a Genetics Center Grant from the National Institute of General Medical Sciences (GM20124), and by the National Foundation Medical Service Grant (C-143). *Reprint address: Department of Human Genetics, Yale University School of Medicine, 333 Cedar St., New Haven, Conn. 06510.

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The Journal of P E D I A T R I C S VoL 88, No. 6, pp. 1054-1056

and whether severity of the condition or psychosocial variables were important factors modifying their response to genetic counseling. PATIENTS

AND METHODS

Parents (usually both) of 30 children with CHD attending the Yale-New Haven Pediatric Cardiac Clinic were offered an explanation of the genetic basis of their child's cardiac lesion and the size of its probable recurrence risk. Families were selected who were new to the Abbreviation used CHD: congenital heart disease

]

Clinic, with only one affected child whose cardiac lesion was considered to be of multifactorial etiology (such as the Fallot tetralogy, ventricular or atrial septal defects, aortic or pulmonic stenosis, coarctation of the aorta, or patent ductus arteriosus). All families accepted the offer and were given a 20- to 30-minute interview during a clinic visit by a cardiologist experienced in genetic counseling. A summarizing letter was sent to each family after their inter0iew. Two to six months later, these families were sent questionnaires* asking what they understood of their child's cardiac lesion, what information they remembered about genetic risk factors, and whether this information *Copies of the questionnairecan be obtained from Y.E.H.

Volume 88 Number 6

Genetic counseling in CHD

Table I. Background data on responders to questionnaire

Age proband Mean (yr) Range (yr) Sex proband Male Female Number of siblings (mean) Age father (mean, yr) Age mother (mean, yr) Completed high school Mean income Religion Roman Catholic Protestant Other

Counseled families (22)

Control families (50)

1.1 0.5-5

3.7 0.25-14

11 11 1.0 30 26 17 $8-10,000

27 23 1.5 35 31 38 $8-10,000

13 6 3

25 20 5

had influenced their reproductive intentions. A second part of the questionnaire elicited demographic data. The same questionnaire was sent to I00 control families from this clinic who had not received formal genetic counseling, but whose children had cardiac defects similar to those of the counseled group. Responses were compared by frequency distributions and chi square analysis. RESULTS Comparability of counseled and control groups. Twentytwo of 30 counseled families and 50 of 100 control families returned the questionnaire (Table I). The ages and sexes of the affected children were not significantly different between counseled and control families; the type of cardiac lesion, its severity, and experience with catheterization or with surgery were comparable between the two groups. Two of the control families had a positive family history for CHD. Demographically the parents were similar in age, income, occupation, education, and ethnic and religious background. The p r e d o m i n a n t R o m a n Catholic affiliation is typical for the geographic area served by this Clinic. Factual responses. All of the counseled group a n d almost all of the control group correctly n a m e d their child's cardiac lesion, or correctly described its anatomic nature (Table II). All of the counseled group a n d half of the control group remembered being given genetic information. Genetic knowledge, however, differed markedly in the two groups. Virtually all the counseled group and over half the control group knew in general that there was a

10 5 5

Table II. Knowledge of cardiac and genetic information

Nature of heart condition Knew specific name (e.g. atrial septal defect) Knew type of CHD (e.g. hole in the heart) Either correct Facts about genetic information Remembered being given genetic information Knew CHD recurs in families Knew heredity is a factor in CHD Knew the same type of CHD tends to recur in families Knew initial risk to first affected child was < 1% Knew risk to siblings was increased Knew risk to siblings was 2-5% Knew risk to children of an affected person with CHD is 3-5%

Counseled families (22)

Control families (50)

80%

43%

90%

84%

100%

92%

100%

52%

100%

70%

96%*

52%

73%*

34%

82%*

24%

77%*

12%

87%*

12%

77%*

30%

*Significance,p < 0.005, counseledcompared with control families.

hereditary factor in C H D and that C H D recurred in families. There were highly significant differences (Table II) in the responses t o all of the more specific genetic questions. Over three-quarters of the counseled group correctly answered each of these questions, but only about an eighth of the control group knew there was an increased risk of C H D occurring in siblings, or that the size of this risk was 2% to 5%. Reproductive attitudes and decisions. In answer to the question "Do you ~ feel that the recurrence risk of congenital heart disease is worth taking if a family wants to have more children?," about the same proportion of counseled (64%) and control (50%) families answered affirmatively (Table III). More control families were undecided. Over half of both the control (58%) and counseled (64%) families p l a n n e d to have no more children. In the majority of families, this was for other than genetic reasons, but five (22%) of the counseled and two (4%) of the control families based their decision on the recurrence risk. The parents' subjective view of the severity of their children's condition was comparable in each group. This concept of severity did not appear to influence reproduc-

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Halloran, Hsia, and Rosenberg

The Journal of Pediatrics June 1976

Table III. Parents' attitudes toward C H D

Severity Child's condition viewed as severe Reproductive attitudes Felt recurrence risk of CHD worth taking if a family wanted more children Not worth taking Undecided Reproductive plans Wanted no more children Recurrence risk most important factor in wanting no more children

Counseled families

Control families

(22)

(50)

9

15

13

25

5 4

8 17

14 5*

29 2*

*Three of these counseledfamiliesbut neither control family viewed their child's conditionas severe. tive attitudes or decisions in either control or counseled families. All of the counseled group felt that the genetic information had been helpful to them. DISCUSSION The remarkably high level of understanding about the nature of their child's lesion by parents from both groups is evidence of the quality of care and attention to parents' needs provided in this Clinic. This compares very favorably with the study by Reiss and Menashe, 3 where a few months after genetic counseling for CHD, only half their families remembered the nature of the cardiac lesion. Only one-quarter of their families remembered recurrence risk figures, in contrast to three-quarters of our counseled families. This was undoubtedly helped by the explanatory letter, 4 to which some may have referred in answering the questionnaire. Nonetheless, our data indicate a low level of genetic knowledge in parents attending a deservedly reputable pediatric cardiac clinic, and demonstrated that genetic counseling can effectively convey genetic information to such parents. Reproductive attitudes are highly subjective, 5 yet the fact that some families did utilize genetic facts to formulate reproductive decisions underscores the importance of their having correct genetic information. Even when reproductive attitudes remain unaltered, genetic knowledge can serve to alleviate unwarranted guilt feelings and to dispel false notions. For instance, one of the control families with several affected male relatives thought only males would be affected; the other family with two ~

similarly affected children thought the recurrence risk was 25%, rather than about 10%. High-recurrence risk, 6 severity and chronicity of a condition, 7 socioeconomic status, a n d education 6-~ have been found to affect the desire for genetic information and its comprehension and retention. In this study of a single type of problem with low-recurrence risk and variably severe chronicity, all o f these factors were comparable between the counseled and control groups. None of these factors distinguished the counseled families who answered correctly from those who answered incorrectly, or distinguished those who utilized the genetic information for reproductive decisions from those who did not alter their reproductive attitudes. Thus these factors have failed to identify families likely to retain or to make use of genetic information. There was no evidence that the genetic information had been unwelcome or harmful to any family. In fact, at a meeting for other parents of children with CHD, when told about genetic aspects of CHD, these parents unanimously urged that genetic factors be made k n o w n to all such parents. Therefore we recommend that parents with C H D be given special opportunities for genetic explanationsl Because there is as yet no consensus about optimal means of transmitting genetic information, ~ different approaches should be tried and tested? The authors gratefully acknowledge the cooperation of Dr. Norman S. Talner, Dr. Marie J. Browne and the Pediatric Cardiology Clinic Staff, and the assistance of Mrs. Carol Sugden. REFERENCES

1. Nora JJ, McGill CW, and McNamara DG: Empiric recurrence risks in common and uncommon congenital heart disease, Teratology 3:325, 1970. 2. Nora 'J J: Etiologic factors in congenital heart disease, Pediatr Clin North Am 18:1059, 1971. 3. Reiss JA, and Menashe VD: Genetic counseling and congenital heart disease, J PEDIATR80:655, 1972. 4. Hsia YE: Choosing my children genes: genetic counseling, in Lipkin M and Rowley PT, editor: Genetic responsibility, New York, 1973, Plenum Press. 5. Pearn JH: Patients' subjective interpretation of risks offered in genetic counseling, J Med Gen 10:129, 1973. 6. Carter CO, Fraser-Roberts JA and Evans KA: Genetic clinic: A follow-up, Lancet 1:281, 1971. 7. Leonard CO, Chase GA, and Childs B: Genetic counseling: A consumer's view, N Engl J Med 287:433, 1972. 8. Fraser FC: Genetic counseling, Am J Human Gen 26:636, 1974. 9. Hsia YE: Lessons learned from evaluating genetic counseling, in Lubs H, editor: Proceedings of workshop on genetic counseling~(in press).

Genetic counseling for congenital heart disease.

The genetic knowledge of parents of children with congenital heart disease, who had received genetic counseling, was compared with that of a control n...
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