ABSTRACT
A new company is offering extensive genetic analysis of embryos during an in vitro fertilisation procedure, allowing the derivation of polygenic scores for several diseases and embryo choice based on these results. Polygenic scores, if properly implemented, can indeed have substantial predictive value, and the possibility of embryo choice based on these data has become real, raising a number of practical and ethical problems. .
Subject(s)
Embryo Research/ethics , Fertilization in Vitro/ethics , Genetic Testing/ethics , Preimplantation Diagnosis/ethics , Preimplantation Diagnosis/methods , Choice Behavior , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , Fertilization in Vitro/methods , Fertilization in Vitro/trends , Genetic Engineering/ethics , Genetic Testing/methods , Genetic Testing/standards , Humans , Multifactorial Inheritance/genetics , Preimplantation Diagnosis/standards , Research DesignSubject(s)
DNA Mutational Analysis , Genetic Testing , Reagent Kits, Diagnostic , Commerce , Cytogenetic Analysis/ethics , Cytogenetic Analysis/methods , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , DNA Mutational Analysis/standards , Genetic Testing/ethics , Genetic Testing/methods , Genetic Testing/standards , History, 21st Century , Humans , Reagent Kits, Diagnostic/economics , Reagent Kits, Diagnostic/ethicsABSTRACT
An extension of newborn screening to genome sequencing is now feasible but raises a number of scientific, organisational and ethical issues. This is being explored in discussions and in several funded trials, in order to maximize benefits and avoid some identified risks. As some companies are already offering such a service, this is quite an urgent matter.
Subject(s)
Genetic Testing , Neonatal Screening , DNA Mutational Analysis/economics , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , Dried Blood Spot Testing/economics , Dried Blood Spot Testing/methods , Dried Blood Spot Testing/standards , Europe , Genetic Testing/economics , Genetic Testing/ethics , Genetic Testing/methods , Genome-Wide Association Study , High-Throughput Nucleotide Sequencing/economics , High-Throughput Nucleotide Sequencing/ethics , High-Throughput Nucleotide Sequencing/methods , Humans , Infant, Newborn , Neonatal Screening/economics , Neonatal Screening/ethics , Neonatal Screening/methods , Practice Guidelines as Topic , United StatesABSTRACT
Next-Generation Sequencing has been used as a diagnostic tool in an increasing manner. Compared to conventional medical interventions, NGS, as a medical intervention, has its own special characteristics. NGS allows us to obtain a multitude of additional findings. However, their correct interpretation requires molecular biological expertise and is still unknown at the time of the sampling. These factors, when applying NGS, lead to a dynamic process of informational interference with the patients' rights. The physician-patient relationship that becomes successive, is loosened by involving non-physician researchers in the validation of the findings and by the fact that genetic data also gives information about the relatives of the patient. Moreover, dealing with risk information lays the burden on the patients and strengthens their responsibility. These challenges increase in international translational medicine and they demand solutions for the protection of the patients' rights.
Subject(s)
DNA Mutational Analysis/ethics , Ethics, Medical , Genetic Diseases, Inborn/genetics , Preimplantation Diagnosis/ethics , Sequence Analysis, DNA/ethics , Female , Genetic Diseases, Inborn/diagnosis , Genetic Privacy/ethics , Genetic Privacy/legislation & jurisprudence , Genetic Research/ethics , Genetic Research/legislation & jurisprudence , Humans , Infant, Newborn , Internationality/legislation & jurisprudence , Patient Advocacy/ethics , Patient Advocacy/legislation & jurisprudence , Physician-Patient Relations/ethics , PregnancyABSTRACT
The ability to patent human genes has been costly to researchers and patients, and has restricted competition in the biotech marketplace. The recent US Supreme Court decision making isolated human genes unpatentable will bring freedom of choice to the patient, and level the playing field for research and development.
Subject(s)
Biomedical Research/legislation & jurisprudence , Genes , Patents as Topic/legislation & jurisprudence , Patient Rights , Supreme Court Decisions , Biomedical Research/ethics , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Carcinoma/diagnosis , Carcinoma/genetics , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , Early Detection of Cancer/ethics , Early Detection of Cancer/methods , Ethics, Research , Female , Genes, BRCA1 , Genes, BRCA2 , Humans , Legislation, Medical , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/genetics , Patents as Topic/ethics , United StatesSubject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , DNA Mutational Analysis , Genetic Testing , Mutation , Preimplantation Diagnosis/methods , Adult , Breast Neoplasms/prevention & control , DNA Mutational Analysis/ethics , Embryo Transfer , Female , Fertilization in Vitro , Genetic Predisposition to Disease , Genetic Testing/ethics , Heredity , Humans , Pedigree , Predictive Value of Tests , Pregnancy , Preimplantation Diagnosis/ethics , Young AdultSubject(s)
Fetus/metabolism , Prenatal Diagnosis/ethics , Sequence Analysis, DNA/ethics , Truth Disclosure , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , DNA Mutational Analysis/statistics & numerical data , Female , Genetic Testing/ethics , Genome, Human/genetics , Genomics/ethics , Genomics/trends , Humans , Pregnancy , Prenatal Diagnosis/statistics & numerical data , Truth Disclosure/ethicsSubject(s)
Genome, Human , Sequence Analysis, DNA/methods , DNA Mutational Analysis/economics , DNA Mutational Analysis/ethics , DNA Mutational Analysis/instrumentation , DNA Mutational Analysis/methods , DNA, Neoplasm/genetics , Genetic Privacy , Genetics, Medical/methods , Humans , Neoplasms/genetics , Quality Control , Reproducibility of Results , Sequence Analysis, DNA/economics , Sequence Analysis, DNA/ethics , Sequence Analysis, DNA/instrumentationSubject(s)
Deafness/genetics , Genetic Testing/ethics , Otolaryngology/ethics , Pediatrics/ethics , Child , Child, Preschool , Connexin 26 , Connexins/genetics , DNA Mutational Analysis/ethics , Genetic Counseling/ethics , Hearing Tests/ethics , Humans , Infant , Informed Consent/ethics , Siblings , SpecializationABSTRACT
En 1982 se comenzó el estudio de la Fenilcetonuria en Cuba. Hasta principios del año 2003 más de 1 860 000 recién nacidos y más de 5 000 individuos con retraso mental fueron estudiados. La prevalencia al nacimiento fue de 1/50 200. Para conocer el espectro mutacional, 30 fenilcetonúricos fueron analizados por PCR-broad range, DGGE y luego secuenciando el exón candidato. Se logró identificar mutaciones en 55 de 60 cromosomas (91,6percent). Las mutaciones más frecuentes fueronE280K (19,6 percent), R261Q (16,3 percent). Cinco (IVS-10, V388M, I65T,R252W, R68S), se detectaron entre el 5 percent y 7,5percent y el resto estuvieron sólo en uno o dos alelos. Se hace un análisis de distribución de las frecuencias relativas de las mutaciones por las provincias, donde existen niños diagnosticados con Fenilcetonuria. Las frecuencias relativas de las mutaciones identificadas en Cuba, se encuentran en mayor porcentaje en la región Habanera (provincias de La Habana y Ciudad de La Habana) (32,72percent), resultando las mutaciones más frecuente la R261Q con un 9,09 (percent) y la R68S con un 5,45 percent. En Holguín(23,63percent) se encontró con mayor frecuencia la E280K (5,45 percent)y la R408W (5,45percent), en Guantánamo (10,9percent) la E280K (5,45percent)y en Granma (9,09 percent) la E280K (3,63percent) y R176X (3,63percent).Hasta la realización de este trabajo, en el resto de las provincias no se habían detectado casos de Fenilcetonuria (AU)
