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Articles 1 - 5 of 5
Full-Text Articles in Life Sciences
Carrier Screening For Women Undergoing Elective Oocyte Cryopreservation (Eoc): A Look At Practice Among Reproductive Endocrinologists At An Academic Fertility Clinic, Melissa Manuelli
Human Genetics Theses
Elective oocyte cryopreservation (EOC) is a process involving freezing and banking oocytes with the intention to be used in the future for pregnancy. Cryopreserving oocytes allows women to enhance their reproductive autonomy by reducing the effects of age-relatedfertility decline. Similarly, expanded carrier screening (ECS) completed prior to conception allows women to consider their full range of reproductive options including in-vitro fertilization (IVF) with preimplantation genetic testing (PGT), use of donor gametes, and prenatal testing and diagnosis. In this retrospective chart review, we examine carrier screening practices for 106 EOC patients, and an age-matched control group of 106 IVF patients who …
Relationship Between Outcomes Of Psychiatric Genetic Counseling And Time Since Onset And Diagnosis Of Psychiatric Illness, Sarah Saxton
Relationship Between Outcomes Of Psychiatric Genetic Counseling And Time Since Onset And Diagnosis Of Psychiatric Illness, Sarah Saxton
Human Genetics Theses
Research shows that psychiatric genetic counseling (pGC) improves outcomes for patients. We conducted a retrospective chart review study to examine the relationship between outcomes of pGC and time since onset and/or diagnosis of psychiatric illness at a specialist pGC clinic. Specifically, we examined change in empowerment scores (as measured by the Genetic Counseling Outcome Scale (GCOS) prior to (T1) and approximately one month after the pGC appointment (T2)), in relationship to: a) time since symptom onset (TSO) and b) time since psychiatric diagnosis (TSD). Linear regression was used to determine the relationship between TSO and/or TSD and GCOS change, and …
Towards The Growing Edge: Integrating Simulation In A Genetic Counseling Graduate Program, Cassandra Pisieczko
Towards The Growing Edge: Integrating Simulation In A Genetic Counseling Graduate Program, Cassandra Pisieczko
Human Genetics Theses
Simulation is a well-established learning practice in medical education; however, it is not well studied in genetic counseling. The current study utilizes action research to document and describe the implementation of a simulated patient (SP) program into the Joan H. Marks Graduate Program in Human Genetics curriculum. With the standards of genetic counseling training now including simulated patient encounters as participatory cases (ACGC 2019 and 2020), the utilization of SP methodology can be expected to grow. The goal of the study was to explore specific considerations of simulation in genetic counseling while meeting the standards of best practice laid out …
Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls
Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls
Human Genetics Theses
Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although …
The Impact Of A Lynch Syndrome Diagnosis By Population Genomic Screening On Family Communication, Medical Management, And Lifestyle Changes, Reem Ibrahim Bux, Brooke Nicole Delehoy
The Impact Of A Lynch Syndrome Diagnosis By Population Genomic Screening On Family Communication, Medical Management, And Lifestyle Changes, Reem Ibrahim Bux, Brooke Nicole Delehoy
Human Genetics Theses
The purpose of population genomic screening programs is to help in prevention and treatment of conditions that takes into account an individual’s unique genetics, environmental, and lifestyle factors. Through this “genome-first” approach, individuals at increased lifetime risk for certain conditions are identified, allowing them and their relatives to qualify for preventative medical care and surveillance (Schwartz et al., 2018). An example institution that utilizes this approach is Geisinger’s MyCode Community Initiative, where their goal is to “make healthcare better” through research and its application to patient care (MyCode Community Health Initiative, n.d.). MyCode reports back medically actionable results for conditions …