Catherine A. Reiser

Cystic Fibrosis Newborn Screening: Impact on Reproductive Behavior and Implications for Genetic Counseling

Objective. To evaluate the impact of newborn screening for cystic fibrosis (CF) on the reproductive knowledge and behavior of CF families and to determine if heterozygote detection with the immunoreactive trypsinogen (IRT) method in conjunction with DNA analysis (IRT/DNA) influences knowledge and attitudes about reproduction in false-positive families. Methods. The Wisconsin CF Neonatal Screening Project investigated 650 340 infants from 1985 to 1994 in a comprehensive randomized controlled trial to study both benefits and risks of newborn screening and to determine if early diagnosis would improve the prognosis of children with CF. Assessments of reproductive knowledge, attitudes, and behaviors of 135 families of children diagnosed as having CF in both the early treatment group and control groups were made 3 months after diagnosis using a questionnaire which was completed by 100 families. The same questionnaire was administered 1 year later to evaluate retention of information. It was completed by 71 families. A follow-up assessment tool was also administered in 1994 and responses obtained from 73 families. Knowledge, attitudes, and behavior among false-positive families were also assessed at the time of the sweat test in 206 families who experienced IRT screening and 109 families tested with the IRT/DNA method. Follow-up assessments were completed 1 year later in 106 IRT families and 63 IRT/DNA families. Results. In families with a CF child, 95% initially understood that there was a 1 in 4 risk in subsequent pregnancies, and there was good retention of this information 1 year later. At the 1994 assessment, 52% of families had not yet conceived more children, but 74% of these already had children. In the couples in whom CF was diagnosed in the first child, 70% (95% confidence interval = 54% to 85%) conceived more children. There were 43 subsequent pregnancies in 31 families. Prenatal diagnosis was used by 26% of the families (8/31) for 21% of the pregnancies (9/43). There were 3 pregnancies with CF detected, all of which were carried to term. In the false-positive groups, >95% of families initially understood that their child definitely did not have CF. There was no difference between false-positive IRT and IRT/DNA groups, and the information was retained at 1 year. Follow-up assessment 1 year after negative sweat tests revealed that 7% of the IRT and 10% of the IRT/DNA families still thought about the results often or constantly. When asked whether the experience of screening affected feelings about having more children, an affirmative response was obtained in 4% of IRT families but in 17% of IRT/DNA families. One year later, more than half of the false-positive IRT/DNA families did not understand that they were at increased risk of having a child with CF. Conclusions. We conclude that CF neonatal screening does not have a significant impact on the reproductive behavior of most families and that prenatal diagnosis is not used by the majority of CF families. IRT/DNA testing experiences seem to affect attitudes about having more children, and some parents are confused about the implications of the results, even with genetic counseling. However, persistent concerns about the sweat test result are limited. Questions raised by this study confirm the need for more research regarding the process of genetic counseling and its impact on reproductive attitudes and behavior in the newborn screening setting.

A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.

Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal‐recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early‐onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal‐dominant dysplasia of unknown genetic etiology. Here, we report three individuals from two unrelated families with radiological features similar to PPRD and SED, Stanescu type who share the same novel COL2A1 variant and were matched following discussion at an academic conference. In the first family, we performed whole‐exome sequencing on three family members, two of whom have a PPRD‐like phenotype, and identified a heterozygous variant (c.619G>A, p.Gly207Arg) in both affected individuals. Independently, targeted sequencing of the COL2A1 gene in an unrelated proband with a similar phenotype identified the same heterozygous variant. We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type.

Validation of radiographic criteria for the diagnosis of Down syndrome in stillborn infants.

We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The iliac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An iliac index of 59 degrees differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55 degrees, and false negatives are common below 64 degrees. We recommend that a conservative cutoff value of 55 degrees be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64 degrees may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.

Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective

The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters’ thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study. Six were interviewed by telephone. Participants had worked with a variety of providers including geneticists, genetic counselors, primary care physicians, and oncologists. Factors identified by Hmong interpreters that made interpretation of content difficult in clinical genetics sessions included: time constraints, technical terms, and unique cultural perspectives of Hmong patients. While all respondents felt their primary role was to interpret session content as close to verbatim as possible, there was notable variation in the description of their interpretation style and other perceived roles in the genetic counseling session. Cultural issues genetics providers could consider when working with Hmong patients and different style issues when working with Hmong interpreters are discussed. Ideas for future studies and suggestions to improve communication with Hmong patients are explored.

Continuing education in genetics for Adoption workers in Wisconsin.

In response to 1982 legislation and 1984 changes in the Wisconsin Adoption Records Laws requiring the collection of a medical-genetic history at the time of termination of parental rights, a continuing education program in genetics was conducted for adoption workers in 1984 and 1985. The education program provided 14 workshops in five locations throughout the state and consisted of a variety of formats and levels of training. In all, 164 participants were trained at least at the introductory level with approximately 40 of these individuals taking part in the advanced levels of training. Evaluations of the training by participants and by a sample of the agency supervisors of trainees ranked the program very highly. A review of genetic history forms completed in post-training sessions verified the expectation that training was beneficial. Trained workers completing the medical-genetic history forms scored somewhat higher than untrained workers and much higher than parents who completed the forms without professional guidance. Medical-genetic history forms completed by birth fathers as part of step-parent adoptions contained little to no useful information about the birth fathers genetic background.

Diversity in Genetic Counseling: Strategies from the LEND Network

To the Editor: We appreciate the article published 17 June 2008, “Diversity in Genetic Counseling: Past, Present and Future,” and its illumination of the issue concerning a lack of ethnic and racial diversity in genetic counseling. The lessons learned regarding the experiences of other health professions offer a solid basis for developing similar initiatives in the field of genetic counseling. Experiences within the network of Leadership Education in Neurodevelopmental Disabilities (LEND) Programs offer additional strategies to address diversity. LEND programs are federally funded, advanced level interdisciplinary training programs committed to training leaders in the field of neurodevelopmental and related disabilities. There are currently 38 programs in the U.S. In 2005, the Association of University Centers on Disabilities (AUCD) announced a grant opportunity within the LEND network to increase leadership training in genetic counseling programs, to increase the genetic content in LEND curricula and to develop innovative means to increase the number and diversity of genetic counselors serving children with special health care needs and their families. Three 3-year projects were funded. They included the LEND programs at Albert Einstein College of Medicine, University of Wisconsin, and Virginia Commonwealth University. Funding was provided through the Health Resources and Services Administration’s Maternal and Child Health Bureau.