<i>Policy Statement:</i> American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing

Park, Vicki; Howard‐Peebles, Patricia N.; Sherman, Stephanie L.; Taylor, Annette K.; Wulfsberg, Eric A.

doi:10.1002/ajmg.1320530416

Cited by 45 publications

(4 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…FXS is considered to be one of the most common genetic conditions, but families impacted by this genetic disorder remain undiagnosed and are unaware of it. In a policy statement by the American College of Medical Genetics, 63 individuals for whom testing should be considered include the following:…”

Section: Prospects For Families With Fragile X Syndromementioning

confidence: 99%

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Visootsak

Warren

Anido

et al. 2005

Clin Pediatr (Phila)

View full text Add to dashboard Cite

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important for primary care physicians to be familiar with these advances when providing anticipatory guidance. Timely diagnosis allows children to receive early intervention services and families to receive genetic counseling. Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members.

show abstract

Section: Prospects For Families With Fragile X Syndromementioning

confidence: 99%

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Visootsak

Warren

Anido

et al. 2005

Clin Pediatr (Phila)

View full text Add to dashboard Cite

show abstract

“…Symptomatic diagnostic genetic testing in children is part of routine medical care in the medical genetics clinic as well as in other medical settings. For example, fragile X molecular testing is part of a standard medical work-up for a child with developmental and speech delay (Park et al, 1994). However, once a diagnosis is made, parents have to suddenly not only manage the implications of the diagnosis for their affected child, but must also face the possibility that other children in the family may be affected or carriers.…”

Section: Diagnostic and Carrier Testingmentioning

confidence: 99%

“Family Matters”: A Conceptual Framework for Genetic Testing in Children

McConkie‐Rosell

Spiridigliozzi

2004

Journal of Genetic Counseling

View full text Add to dashboard Cite

Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit, the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent's or the child's, when there is no identified medical benefit. Historically, a western bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and genetic-testing guidelines for minors. This bioethics paradigm is guided by the principles: respect for autonomy, beneficence, nonmaleficence, and justice. Genetic testing in children, when viewed through a traditional bioethics filter is limited by its focus on the individual because children are not only individuals, they are also integral parts of a larger social context, that of their family. Because this bioethics paradigm places a strong emphasis on individual autonomy, the family's beliefs and values and the parents' concern for their children may be overshadowed by the medical community's attempt to preserve the child's "right" to an autonomous decision about genetic testing. The purpose of this paper is to first discuss the circumstances in which genetic testing of minors occurs and then present a theoretical and ethics-based conceptual framework that may be useful in the development of genetic counseling interventions.

show abstract

“…The cloning of the gene and the knowledge of the inheritance pattern of the fragile X syndrome make it possible to consider a screening programme for premutation and full mutation carriers in the general population [11, 12, 13, 14, 15, 16, 17, 18]. Several general-population-based screening strategies have been suggested for genetic diseases and are being or have been analysed in a pilot study [19].…”

Section: Introductionmentioning

confidence: 99%

Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population

Wildhagen

Polder

et al. 1998

Public Health Genomics

View full text Add to dashboard Cite

Objective: Evaluation of the costs, effects and savings of three strategies for female fragile X premutation and full mutation carrier screening in the general population. Methods: We calculated the costs, effects and savings by using a general model for prenatal, preconceptional, and school carrier screening. Assumptions were based on literature data, expert opinions, prices and tariffs. Results: Prenatal screening will detect most carriers and will lead to the highest number of avoided fragile X syndrome patients. The costs per detected carrier are quite similar for all screening programmes (around USD 45,000). All screening strategies have a favourable cost-savings balance (USD 14 million for prenatal screening, USD 9 million for preconceptional screening and USD 2 million for school screening). Conclusions: From an economic point of view, there is no obstacle to fragile X screening. The decision to screen or not can (and should) therefore concentrate on discussion of medical, social, psychological and ethical considerations.

show abstract

Policy Statement: American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing

Cited by 45 publications

References 1 publication

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

“Family Matters”: A Conceptual Framework for Genetic Testing in Children

Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population

Contact Info

Product

Resources

About