Parents Sharing Information With Their Children About Genetic Conditions

Disclosure of a Diagnosis 

Past research on sharing information has highlighted disclosure of a chronic illness to a child (American Academy of Pediatrics 1999, Mellins and Ehrhardt 1994, Nehring et al 2000, Thorne et al 2000, Waugh 2003). Disclosure guidelines have emphasized the importance of taking the child’s level of cognitive development and psychosocial maturity into account (Bibace and Walsh 1980, Woodard and Pamies 1992). In general, younger children should be given simple explanations about the condition and the everyday tasks of management. Older, more mature children and adolescents should be more fully informed of the nature and consequences of their condition and their roles in caring for themselves (AAP, 1999).

Some reasons given by parents of children with serious conditions (e.g., HIV/AIDS and cancers) for nondisclosure include concerns for the child’s emotional health and fears that the knowledge will negatively affect a child’s will to live. For parents of children with HIV/AIDS, reasons for nondisclosure include a parent’s sense of guilt about transmitting the infection to the child, potential child anger for parental transmission of the condition, and fear of inadvertent disclosure to others. Disclosing to others may lead to stigma, discrimination, or ostracism of the child or other family members. For some parents who also have the condition, disclosure may be difficult for them as they cope with their own condition (American Academy of Pediatrics 1999, Mellins and Ehrhardt 1994, Nehring et al 2000, Thorne et al 2000, Waugh 2003). Disease severity is also likely to influence disclosure because as the child gets sicker, there often is a greater need to disclose (Wiener, Battles, Heilman, Sigelman, & Pizzo, 1996). The outcomes of disclosure are not well known in the variety of childhood chronic illnesses because studies are not available. However, studies in children with cancer and HIV/AIDS have found that children exhibited better coping skills and fewer psychosocial problems when information about the condition and consequences were disclosed (Katz and Jay 1984, Lipson 1993, Lipson 1994, Slavin et al 1982, Spinetta and Maloney 1978, Wiener et al 1996).

Disclosure of Genetic Testing Results 

In recent years, concerns have arisen related to genetic carrier testing of children younger than 18 years. These concerns focus on the psychological or social harm of genetic information, the fact that minor children are not autonomous, and the potential inability of children to fully assess the potential risks and benefits of genetic information (McConkie-Rosell & Spiridigliozzi, 2004). Current guidelines recommend that carrier testing of children only be done when there is clear medical or psychosocial benefit to the child (American Society of Human Genetics/American College of Medical Genetics 1995, National Society of Genetic Counselors 1995; Report of the Working Party of the Clinical Genetics Society, 1994). Usually, medical benefits of testing are determined based on early diagnosis and treatment resulting from newborn and early screening or genetic testing of children. Identification of the psychological benefits of genetic testing in children is more complicated and not well understood. There is little research on the consequences of testing in childhood and the long-term psychological effects of genetic information on children (Fanos 1997, McConkie-Rosell and Spiridigliozzi 2004, Ross and Moon 2000). Because of the difficulty in determining psychological benefit, the focus of genetic carrier testing of children is on who has the right to make the decision (McConkie-Rosell et al., 1999) and whose right to autonomy is endangered: parent or child. Debates and discussions have focused on the potential concerns and benefits of genetic testing. Potential concerns include changed self-perceptions in the child, parents, and family; possible feelings of unworthiness and difficulties integrating with peers; stigma and discrimination; loss of confidentiality; prevention of autonomous decision making; and the right of the child not to know about the genetic condition (Clarke 1998, Clarke and Flinter 1996, Fanos and Johnson 1995, Wertz et al 1994). Potential benefits of testing include helping children adjust to the information before they need to make choices about reproduction and marriage, enhancing communication, respecting an adolescent’s autonomy, and resolving parents’ concerns about carrier status (Elger and Harding 2000, McConkie-Rosell et al 1999, Michie and Marteau 1996, Richards 1998, Robertson and Sasvulescu 2001).

Sharing Genetic Information Within a Family Context 

Families are the context in which parents have rights and responsibilities to care for, nurture, and teach their children to love and develop into social beings (Donaldson 1993, Nelson and Nelson 1995, Smith 1993). Families are characterized by love, obligation, traditions, and goals; they are defined by the collectivity of the group, favoritism, and sharing of identity, history, and future (Boss 1988, Day 1995, Nelson and Nelson 1995, White and Klein 2002). Through this shared identity, families develop notions of what makes life good and give their members a sense of belonging and direction (McConkie-Rosell & Spiridigliozzi, 2004). In the context of genetic conditions, parents need to establish an environment that allows their children to grow, cope, and adjust to relevant genetic information as part of their roles in nurturing their children into social beings (McConkie-Rosell & Spiridigliozzi).

Despite this prior work addressing disclosure of a diagnosis and genetic carrier testing results to children, little research has been conducted on parental preferences or the process that parents use to inform their children about the genetic condition or the possibility of inherited risk. The purpose of this qualitative analysis is to examine parents’ beliefs and strategies related to sharing information about a genetic condition with their children. The unique aspect of the present analysis is that parents were asked to discuss how they shared information with their children about the condition and its management and also about the genetic nature of the condition.

Study Design 

This analysis on how parents share information with their children is part of a larger data set from a study of 86 families that used a mixed methods design to expand and refine the family management style framework (Knafl & Deatrick, 2003) to include family information management (Gallo, Knafl, & Angst, 2001). The institutional review boards of the university and the clinical sites approved the larger study.

Drawing from the principles of naturalistic inquiry (Lincoln & Guba, 1985), and fundamental qualitative description (Sandelowski, 2000), we explored parents’ beliefs and strategies around sharing information with their children about genetic conditions. The present analysis focuses on how parents responded to specific interview questions that addressed information sharing with children: what parents told the child with the genetic condition and healthy siblings about the condition and how the condition is passed on in the family, how parents decided to tell their children about the condition, at what age the child should be told about the condition and its inheritance, and advice that parents received from health care professionals about sharing information with children.

Sample 

The sample of 139 parents and primary caregivers were recruited from three clinical sites in Chicago and surrounding suburbs. The total sample consists of 86 families of children with various genetic conditions resulting from single gene mutations including phenylketonuria, sickle cell disease, cystic fibrosis, sickle cell disease, neurofibromatosis, hemophilia, thalassemia, Marfan syndrome, and Von Willebrand disease. These conditions were selected based on their known genetic inheritance patterns, varying modes of transmission, clinical features and incidence in ethnic groups, association with normal/near normal cognitive functioning, and expected survival into adulthood. In selecting these genetic conditions, the goal was to capture the diversity and range in parents’ information sharing experiences. Inclusion criteria for the sample required that at least one parent participate and understand and speak English and that the target child with the genetic condition be school age, biological for at least one parent, the oldest with a genetic condition in the family if more than one child is affected, and no more than 2 years in age for grade in school. No limitations were placed on the sample in regard to demographics such as ethnicity, socioeconomic status, or race.

Measures and Data Collection Procedures 

The primary data collection measure was a 37-question semi-structured interview guide developed for the larger study that contained specific questions for this analysis. The interview guide was adapted from a measure used by the authors in their prior studies of family response to chronic illness (Knafl, Breitmeyer, Gallo, & Zoeller, 1996). Insights from the literature on information management were considered in the guide’s development. The five questions from the guide used for this specific analysis include: What have you told/not told your child about the condition and how it is passed on in the family? What have you told/not told other children in the family? How did you decide this? Has anyone given you any advice about how to tell your children about how the condition is passed on in the family? At what age do you believe a child should be told about how the condition is passed on?

The project director contacted parents regarding their interest in participating in the study, either through direct contact at the clinical site or after they had expressed interest after receiving a letter from the site’s clinic director. Once parents agreed to participate, project staff set up a convenient time and place for their interviews. After obtaining informed consent, semi-structured interviews were conducted in the family’s home or in a quiet room at the university or clinical site. The project director, research assistant, principal investigator, or an advanced practice nurse interviewed all participants individually. Interviews were digitally recorded and lasted from approximately 60 to 120 minutes. Each participant received $50 for the time and travel involved in this study.

Data Analysis 

Digitally recorded interviews were transferred to a computer, transcribed verbatim, and processed using the Atlas.ti software (4.2 version) program designed to store and retrieve coded data (Muhr, 1997). The project director or a research assistant compared each transcript to the digital recording for content accuracy. The digital recordings were then deleted based on the project’s institutional review board approval. Members of the research team double-coded 98 transcripts (70%); the remaining 41 transcripts (30%) were single-coded by one member of the team. Case summaries and analysis matrices were then developed to compare within and across families (Miles & Huberman, 1994) and to identify the overall approach used by parents in sharing information with their children.

Sample Characteristics 

All participants (N = 139) were either parents or caregivers who were involved in the everyday management of children with various single gene conditions (see Table). For simplicity, the word “parent” is used throughout this manuscript to reflect both parent and caregiver participants. Four study participants (three aunts and one sister) were eliminated from this analysis because their responses were limited. The children with the genetic conditions were school-agers or adolescents at the time of the interview and were within 2 years of their regular classroom by age.

TABLE. Sample characteristics

	Characteristics	n	%
	Child’s condition	86	100%
	Sickle cell disease	29	33.7
	Phenylketonuria	16	18.6
	Cystic fibrosis	15	17.4
	Neurofibromatosis	11	12.8
	Hemophilia	6	7.0
	Thalassemia	4	4.7
	Marfan syndrome	4	4.7
	Von Willebrand	1	1.2
	Parent’s education
	Grade school	2	1.4
	Some high school	5	3.6
	High/vocational school	33	23.8
	Some college	46	33.1
	College	29	20.9
	Some graduate school	4	2.9
	Graduate/professional	20	14.4
	Parent’s ethnicity
	Asian	4	2.9
	African-American/Black	38	27.3
	Hispanic or Latino	4	2.9
	White	83	59.7
	Mixed	5	3.6
	Other	5	3.6
	Annual family income
	Less than $10,000	10	7.2
	$10,000—$19,999	9	6.5
	$20,000—$29,999	13	9.4
	$30,000—$49,999	9	6.5
	$50,000—$74,999	30	28.8
	$75,000—$99,999	27	19.4
	> $100,000	25	18.0
	Parents’ religious preference
	Catholic	52	37.7
	Protestant	47	38.8
	Muslim	4	2.9
	Jewish	4	2.9
	No preference	15	10.8
	Other	16	11
	Age	M	SD
	Parents (range: 22—57 years)	40.23	7.17
	Child with genetic condition (range: 3.7—15.9 years)	10.1	3.18

The parents reflected a range of ages from 22 to 57 years (M = 40.23 years) and varied educational backgrounds. More than half the sample was White (n = 83; 59.7%), and most were either Protestant (38.8%) or Catholic (37.7%). The children with genetic conditions ranged in age from 3.7 years to 15.9 years; 45 (52.3%) of these children were female. The healthy siblings ranged from ages 4 months to 34 years, and some of the older siblings did not reside in the household. Of the 123 parents who reported income, 19 (13.7%) reported incomes of less than $20,000 and 25 (18.0%) reported incomes in excess of $100,000. Fifteen (17.4%) of the families had at least two living children with the genetic condition.

Information Sharing: A Developmental Approach 

The findings are discussed related to the specific themes derived from the interview questions related to parents’ information telling: Parents’ approaches and goals for information sharing, assessing children’s readiness and interest, reframing strategies regarding the condition and its management, parents sharing genetic information with children, and advice from health care professionals.