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- Medicine and Health Sciences, Medical Sciences, Genetic Counseling (3)
- Medicine and Health Sciences, Medical Sciences, Genetic Phenomena (2)
- African-American (1)
- Breast cancer (1)
- Cardiac Death (1)
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- Child’s Diagnosis (1)
- Decisions (1)
- Family Planning (1)
- Family history (1)
- Genetic Testing (1)
- Genetic counseling (1)
- Genetic testing (1)
- Genomic Medicine (1)
- Heart Disease (1)
- Influencing Factors (1)
- Integrating Genetic Counseling (1)
- Male Perspective (1)
- NCCN (1)
- National Comprehensive Cancer Network (1)
- Oncology (1)
- Parental Attitudes (1)
- Pediatric (1)
- RETT Syndrome (1)
- Sickle Cell Trait (1)
- Testing (1)
- Understanding Barriers (1)
Articles 1 - 7 of 7
Full-Text Articles in Genetic Phenomena
Assessing Identification Of Newly Diagnosed Breast Cancer Patients For Referral To Genetic Counseling, Corinne Marie Locke
Assessing Identification Of Newly Diagnosed Breast Cancer Patients For Referral To Genetic Counseling, Corinne Marie Locke
Theses and Dissertations
Since 1998, the National Comprehensive Cancer Network (NCCN) guidelines have specified clinical indications for genetic testing for breast cancer susceptibility genes, but retrospective studies have shown that, despite meeting the NCCN criteria, patients are not always advised of the option of genetic testing. Further compounding this issue, studies have shown that cancer family history intake and documented family history can be incomplete even when taken by oncology providers. At this study site and other cancer centers in the country, patients with a new diagnosis of breast cancer are referred for genetic counseling by their cancer care team if they are …
Quality Of Life Of Children With Spinal Muscular Atrophy: Parents’ Perspectives In Light Of New Treatments, Analyssa R. Tallas
Quality Of Life Of Children With Spinal Muscular Atrophy: Parents’ Perspectives In Light Of New Treatments, Analyssa R. Tallas
Theses and Dissertations
Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®), or both nusinersen and onasemnogene abeparvovec-xioi. Methods: The parents of children with SMA were recruited to complete anonymous online surveys. All surveys included qualitative questions about quality of life. Surveys regarding children in the 1-12-month and 13-24-month age groups included the Pediatric Quality of Life Infant Scales assessment. Surveys regarding children in the 2-4-year age group included the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Pediatric Quality of …
Understanding Barriers To Genetic Testing For Sickle Cell Trait: The African-American Male Perspective, Shandrea Foster
Understanding Barriers To Genetic Testing For Sickle Cell Trait: The African-American Male Perspective, Shandrea Foster
Theses and Dissertations
Research has shown a reluctance in African-American males to pursue testing for sickle cell trait. Few studies have tried to discern what barriers are contributing to this issue within the African-American male community. Research suggests a lack of knowledge may be the biggest contributing factor. This study hypothesized there would be a significant difference in knowledge of sickle cell trait based on educational level, age, and health beliefs. African-America male participants (N=116), ages 18 and over, completed a questionnaire assessing knowledge, risk perception, health beliefs, barriers, and motivating factors within the context of sickle cell trait. One-way and two-way analysis …
Integrating Genetic Counseling And Testing In The Pediatric Oncology Setting: Parental Attitudes And Influencing Factors, Lauren Renee Desrosiers
Integrating Genetic Counseling And Testing In The Pediatric Oncology Setting: Parental Attitudes And Influencing Factors, Lauren Renee Desrosiers
Theses and Dissertations
Cancer predisposition syndromes (CPS), caused by germline pathogenic variants in tumor suppressor genes and oncogenes, are genetic conditions that put an individual at increased risk to develop cancer. It is estimated that 10-15% of children with cancer have an underlying CPS. Although genetic testing for these conditions has become routine in the adult setting, incorporation of germline genomic technologies into pediatric cancer care has not occurred as rapidly. The purpose of this study is to assess desire for genetic counseling and testing services among parents of children with cancer to provide parental insight in the incorporation of genomic technologies in …
Family Planning Decisions After A Child’S Diagnosis Of Rett Syndrome: A Pilot Study, Erin E. Huggins
Family Planning Decisions After A Child’S Diagnosis Of Rett Syndrome: A Pilot Study, Erin E. Huggins
Theses and Dissertations
Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females. In 99% of cases, RTT is believed to occur sporadically, or de novo. However, in rare cases, RTT can be passed down from parent to child through gonadal mosaicism or asymptomatic carrier mothers. It is known that having a child with an inherited genetic condition can lead to changes in family planning; however, little research has investigated this phenomenon in sporadic genetic conditions, such as RTT. This present study used a questionnaire to assess family planning decisions of parents of children with RTT. Forty-three percent of respondents reported …
Exercise Recommendations For Active Adults At Risk For Sudden Cardiac Death: “Can I Continue To Exercise?”, Kacie Lynn Baker
Exercise Recommendations For Active Adults At Risk For Sudden Cardiac Death: “Can I Continue To Exercise?”, Kacie Lynn Baker
Theses and Dissertations
Sudden arrhythmic death syndrome (SADS) is due to genetic conditions associated with cardiac ion channelopathies and cardiomyopathies. Many of these conditions have exercise guidelines regarding eligibility and disqualification recommendations for competitive athletes through the American Heart Association and the American College for Cardiology. This study investigates how medical professionals communicate these exercise recommendations to patients, and in turn, how well patients understand these recommendations. The study also explores motivations for either continuing or discontinuing an exercise practice after a diagnosis. A questionnaire was distributed through cardiac disease-focused support groups and organizations. Data from 67 individuals with a SADS condition were …
The Perceived Utility Of Personalized Genomic Medicine In Individuals With A Family History Of Heart Disease: A Pilot Study, Dana Margaret Mittag
The Perceived Utility Of Personalized Genomic Medicine In Individuals With A Family History Of Heart Disease: A Pilot Study, Dana Margaret Mittag
Theses and Dissertations
According to the World Health Organization (2005), cardiovascular disease (CVD) is the number one cause of death in most countries. Assessing a patient’s risk for heart disease may include incorporating factors such as their gender, age, weight, tobacco history, cholesterol, blood pressure, family history, and more recently, genetics. Genome-wide association studies (GWAS) have made it possible to identify risk loci for many of the common, complex disorders, including coronary artery disease (CAD). As the medical genetics community undergoes a shift from a genetics focus to a genomics oriented focus, genomic medicine is becoming more accessible. Research has begun to examine …