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Genetic testing for autism spectrum ...

Shutske, Krysta Barton.

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Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation./
作者:	Shutske, Krysta Barton.
面頁冊數:	90 p.
附註:	Source: Dissertation Abstracts International, Volume: 77-02(E), Section: B.
Contained By:	Dissertation Abstracts International77-02B(E).
標題:	Public health. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3724077
ISBN:	9781339073866

Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation.
Shutske, Krysta Barton.

Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation. - 90 p.

Source: Dissertation Abstracts International, Volume: 77-02(E), Section: B.

Thesis (Ph.D.)--University of Washington, 2015.

Genetic testing for ASD is a new, complex and evolving aspect of healthcare, occurring in the setting of substantial challenges to the diagnosis and treatment of this group of conditions (Jeste & Geschwind, 2014). To date there has been little focused research examining what families experience through the genetic testing process and what they see as the benefits and or harms of genetic testing for ASD. There also has not been any research exploring health care provider views about genetic testing for ASD. My research focuses on three aspects of genetic testing for ASD: guidelines, parent's experiences, and provider and parent perspectives.

ISBN: 9781339073866Subjects--Topical Terms:

534748
Public health.

Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation.
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245 1 0 $a Genetic testing for autism spectrum disorder (ASD): Evaluating the challenges of genomic translation.
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500 $a Source: Dissertation Abstracts International, Volume: 77-02(E), Section: B.
500 $a Adviser: Wylie Burke.
502 $a Thesis (Ph.D.)--University of Washington, 2015.
520 $a Genetic testing for ASD is a new, complex and evolving aspect of healthcare, occurring in the setting of substantial challenges to the diagnosis and treatment of this group of conditions (Jeste & Geschwind, 2014). To date there has been little focused research examining what families experience through the genetic testing process and what they see as the benefits and or harms of genetic testing for ASD. There also has not been any research exploring health care provider views about genetic testing for ASD. My research focuses on three aspects of genetic testing for ASD: guidelines, parent's experiences, and provider and parent perspectives.
520 $a In Chapter 2, a guideline review tool was used to analyze five professional guidelines, identifying similarities and differences both in their content and in the process used to develop them to determine where there is and is not consensus in regard to genetic testing for individuals with ASD and to evaluate the guideline creation process.
520 $a Chapter 3 examines, through qualitative interviews and exploration of diagnostic services for ASD, what genetic testing is being offered to families with ASD and what the path from a clinical ASD diagnosis to genetic testing looks like. Currently the pathway from an ASD diagnosis to genetic testing is messy, expensive, sometimes random and, the interviews in this study suggest, often puzzling or dissatisfying to both patients and providers so efforts to create a clearer and more transparent approach would benefit all involved.
520 $a Chapter 4 examines provider and parent attitudes about genetic testing for ASD, identifying their concerns and motivations to obtain testing and their thoughts on the benefits and barriers to testing. There is variability in provider attitude and practices toward genetic testing for ASD, as well as parent uncertainty about the value of testing. When providers recommend testing, parents generally follow their advice but they do so primarily to ensure that they are providing all recommended care.
520 $a In conclusion, there is a broad range of opinion in the medical community when it comes to offering genetic testing for individuals with ASD and these divergent perspectives extend to the clinical guidelines. As a result, offering genetic testing to individuals with ASD is disorganized and as a result, confusing for parents. Finding a way to make the process understandable and easy for families to navigate would be most beneficial to parents. Providers involved in the diagnosis, treatment, and care of individuals with ASD should focus on transparency for families, more research on benefits and outcomes of genetic testing related to ASD, and movement towards clinician consensus on testing recommendations.
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