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Full-Text Articles in Medical Genetics

Determinism V. Free Will & Genetic Evidence Of Addiction In Plea Bargaining And Sentence Mitigation: Conversion Of Incarceration To Probation And Rehabilitation Based On Genetic Addiction Risk Severity (Gars) Test, Kenneth Blum, Paul Mullen, Richard Green Dec 2022

Determinism V. Free Will & Genetic Evidence Of Addiction In Plea Bargaining And Sentence Mitigation: Conversion Of Incarceration To Probation And Rehabilitation Based On Genetic Addiction Risk Severity (Gars) Test, Kenneth Blum, Paul Mullen, Richard Green

St. Mary's Law Journal

In this Article, Dr. Kenneth Blum and his team present the case of a presently abstinent, thirty-five year old alcoholic (“AG”) who has several convictions for DWI. AG has undergone and continues to be engaged in out-patient substance abuse treatment. He entered treatment before adjudication and was mandated by the court to continue treatment to assist in maintaining sobriety. Treatment included the administration of the Genetic Addiction Risk Severity (“GARS”) Test.

AG was facing a probable five-year sentence for his fifth DWI conviction in Bexar County, Texas. However, because AG’s genetic risk results indicated a genetically induced dopamine dysfunction, hypodopaminergia, …


Exploring Parental Attitudes On Autism Genetic Testing After Receiving Non-Pathogenic Results, Christina Szi May 2022

Exploring Parental Attitudes On Autism Genetic Testing After Receiving Non-Pathogenic Results, Christina Szi

Human Genetics Theses

Whole exome sequencing (WES) is quickly moving toward becoming a first-tier test for autism spectrum disorder (ASD); however, the diagnostic yield of these tests can be quite low. Many parents will not receive a molecular diagnosis to explain the underlying cause of their child’s autism, so it is important to understand how these parents view genetic testing: both regarding satisfaction with genetic testing and if such results cause significant emotional distress. We surveyed 520 parents who enrolled their child with ASD in SPARK Research Match and received a null genetic finding through WES. We found that, despite not receiving a …


The Experiences And Needs Of Individuals With A Variant Of Uncertain Significance (Vus) On Genetic Tests For Hereditary Cancer Syndromes: A Grounded Theory Study, Danielle Gould Mar 2022

The Experiences And Needs Of Individuals With A Variant Of Uncertain Significance (Vus) On Genetic Tests For Hereditary Cancer Syndromes: A Grounded Theory Study, Danielle Gould

Doctoral Dissertations

Background: The use of multigene panel testing for identifying individuals with hereditary cancer susceptibility has expanded in recent years. The number of individuals who have a variant of unknown significance (VUS) result is increasing. However, little is known about the experiences and needs of this group. This study’s purpose was to describe the experiences and needs of individuals with a VUS result by focusing on their experiences in communicating with healthcare providers and family members. Methods: A constructivist grounded theory approach was used. Recruitment took place from January–July 2021 through social media: the Prospective Registry of Multiplex Testing (PROMPT), and …