The reuse of genetic information in research and informed consent.

Important advances in genetics research have been made in recent years. Such advances have facilitated the availability of huge amounts of genetic information that could potentially be reused beyond the original purpose for which such information was obtained. Any such reuse must meet certain ethical criteria to ensure that the dignity, integrity, and autonomy of the individual from whom that information was obtained are protected. The aim of this paper is to reflect on these criteria through a critical analysis of the literature. To guarantee these values, ethical criteria need to be established in several respects. For instance, the question must be posed whether the information requires special attention and protection (so-called genetic exceptionalism). Another aspect to bear in mind is the most appropriate type of consent to be given by the person involved, on the one hand favouring research and the reuse of genetic information while on the other protecting the autonomy of that person. Finally, there is a need to determine what protection such reuse should have in order to avoid detrimental consequences and protect the rights of the individual. The main conclusions are that genetic information requires special care and protection (genetic exceptionalism) and that broad consent is the most practical and trustworthy type of consent for the reuse of genetic information.

Double-stranded sperm DNA damage is a cause of delay in embryo development and can impair implantation rates.

OBJECTIVE: To analyze the effect of single- and double-stranded sperm DNA fragmentation (ssSDF and dsSDF) on human embryo kinetics monitored under a time-lapse system. DESIGN: Observational, double blind, prospective cohort study. SETTING: University spin-off and private center. PATIENT(S): One hundred ninety-six embryos from 43 infertile couples were included prospectively. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): SsSDF and dsSDF were analyzed in the same semen sample used for intracytoplasmic sperm injection. Embryo kinetics was then monitored using time-lapse technology, and the timing of each embryo division was obtained. RESULT(S): When comparing embryos obtained from semen samples with low dsSDF and high dsSDF, splitting data using a statistically significant delay in high dsSDF was observed in second polar body extrusion, T4, T8, morula, and starting blastocyst and embryo implantation rates were impaired. Embryo kinetics and implantation rates are not significantly affected when high values of ssSDF are present. Different patterns of delay in embryo kinetics were observed for these different types of DNA damage: dsSDF caused a delay along all stages of embryo development; however, its major effect was observed at the second polar body extrusion and morula stages, coinciding with embryo DNA damage checkpoint activation as described before; ssSDF had its major effect at the pronucleus stage, but embryo kinetics was then restored at all following stages. The results show that dsSDF could be the main type of DNA damage that affects embryo development in intracytoplasmic sperm injection cycles, probably due to motility-based sperm selection in this assisted reproduction procedure. CONCLUSION(S): Double-stranded sperm DNA damage caused a delay in embryo development and impaired implantation, while single-stranded DNA damage did not significantly affect embryo kinetics and implantation.

The endometrial receptivity array for diagnosis and personalized embryo transfer as a treatment for patients with repeated implantation failure.

OBJECTIVE: To demonstrate the clinical value of the endometrial receptivity array (ERA) in patients with repeated implantation failure (RIF), for guiding their personalized embryo transfer (pET) as a novel therapeutic strategy. DESIGN: Prospective interventional multicenter clinical trial. SETTING: University-affiliated infertility and private clinics. PATIENT(S): Eighty-five RIF patients and 25 comparison patients. INTERVENTION(S): Endometrial sampling and pET guided by ERA. MAIN OUTCOME MEASURE(S): A receptive (R) or nonreceptive (NR) endometrial status according to ERA. Pregnancy (PR) and implantation (IR) rates after pET. RESULT(S): The ERA test gave an R result of 74.1% in RIF patients versus 88% in control subjects. Clinical follow-up was possible in 29 RIF patients, in whom pET was performed, resulting in 51.7% PR and 33.9% IR. The IRs and PRs in the 6 months after the biopsy showed that pregnancy was not related to the local injury. Twenty-two RIF patients (25.9%) were NR, and in 15 of them a second ERA validated a displacement of the window of implantation (WOI). In eight of them, pET was performed on the day designated by the ERA, resulting in 50.0% PR and 38.5% IR. These results should be considered as preliminary. CONCLUSION(S): There is an increased percentage of WOI displacement in RIF patients compared with comparison group patients, leading to the concept of pET as a therapeutic strategy. Rescue of NR patients by pET in a displaced WOI results in similar PR and IR.