A systematic review of noninvasive preimplantation genetic testing for aneuploidy.

Noninvasive and minimally invasive preimplantation genetic testing for aneuploidy (PGT-A) is a tool that may one day become the gold standard for embryonic chromosomal screening. Investigations on this topic have ranged from studying the culture media of embryos to the fluid inside the blastocoel, all in an attempt to find a reliable source of DNA without the need to biopsy the embryo. There is great interest across the board, both from those for and against biopsy, in a reliable test process that would give the patient and provider the same information possible from a biopsy without the risk. We aim to explore the current available research to better understand the utility and accuracy of PGT-A with these new sampling techniques. General concordance rates in comparison with biopsy-based PGT-A are promising, but it is clear that additional research and understanding are needed before adopting noninvasive and minimally invasive PGT-A as a widely used tool with strong clinical utility.

Gay, lesbian, and bisexual patients' recommendations for genetic counselors: a qualitative investigation.

Gay, lesbian, and bisexual (GLB) individuals comprise a growing patient population in genetic counseling. However, only one article from a genetic counseling journal provides empirical data on GLB patients' genetic counseling experiences and genetic counselor attitudes and practices regarding GLB patients. The present study, an extension of the aforementioned article, gathered further information about patients' genetic counseling experiences through semi-structured telephone interviews. Twelve of the previous study's 29 patient respondents (n = 10 lesbian women, n = 1 gay man, n = 1 bisexual woman) participated. Interview questions concerned the use of medically inclusive forms, factors influencing patient disclosure, counselors' ability to relate to them, and their expectations of genetic counselors. Inductive analysis of the interviews yielded seven themes: 1) Medically inclusive forms with gender neutral terms are important; 2) Genetic counselor ability to relate to a GLB person depends more on the relationship established during the session and less on external symbols; 3) The presence of GLB-friendly symbols increases comfort when disclosing one's orientation; 4) Inclusion of the patient's partner is important and best done by encouraging their active participation in sessions; 5) When GLB patients disclose their orientation, they expect to be treated like any other patient; 6) Providers should ask about orientation if medically pertinent and the remaining discussion should take orientation into consideration; and 7) When a provider inquires about orientation it should be done in a safe and appropriate way. Illustrative quotations, genetic counseling practice implications, and research recommendations are presented.

Are genetic counselors and GLBT patients "on the same page"? An investigation of attitudes, practices, and genetic counseling experiences.

Gay, lesbian, bisexual, and transgender (GLBT) individuals comprise a growing patient population in genetic counseling, yet literature on working with this population is scarce. This study sought to investigate GLBT patient experiences in genetic counseling and genetic counselor attitudes and practices when counseling GLBT patients. Twenty-nine GLB individuals who had previously participated in genetic counseling, and 213 genetic counselors completed online surveys. No individuals identifying as transgender participated. The patient survey assessed disclosure of orientation, discrimination in genetic counseling, and quality of services received. The counselor survey assessed comfort with and attitudes about counseling GLBT patients, disclosure of counselor orientation, and whether they counsel differently with this population. Every patient denied experiencing discrimination during their session, but 17% reported their genetic counselor assumed they were heterosexual, and 45% indicated intake forms were not GLBT-inclusive. A majority of counselors (91%) reported having counseled GLBT patients and indicated they were comfortable doing so (86%), and 72% indicated no differences in their counseling approaches with GLBT patients. Few counselors (17%) received training in GLBT issues, and most (61%) desired such education. Additional findings and practice and research recommendations are presented.