RESUMO
Artificial intelligence (AI) technologies have a long history, with increasing presence and potential in society and medicine. Much of the medical literature is highly optimistic about AI and machine learning, but fears also exist that healthcare professionals will be replaced by machines. AI remains mysterious for many practitioners, so this paper aims to unwind both hype and fear related to the technology for genetics professionals. After an historical introduction to AI in understandable and practical terms, we review its limitations. Building upon this foundation, we discuss current AI applications in medicine, including genomics and genetic counseling, offering grounded ideas about the impact and role of AI in genetic counseling and delivery of genetic services. Since AI is already being used in genomics today, now is the time to fundamentally understand what it is, how it is being used, what its limitations are, and how it will continue to be integrated into genetics as we look ahead.
Assuntos
Inteligência Artificial , Serviços em Genética , Genômica , Pessoal de Saúde , HumanosRESUMO
PURPOSE: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms. METHODS: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES). RESULTS: The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity. She also had blepharoptosis with a hooded appearance and retinal pigment hypertrophy of the inferior retina bilaterally. Systemic findings include atrial septal defect, patent ductus arteriosus, congenital clubfoot, syndactyly, tethered cord, and laryngeal cleft. WES identified a de novo heterozygous R1136X pathogenic variant in the BCOR gene. CONCLUSION: The typical ocular manifestation of OFCD syndrome is congenital cataracts, which can have a significant impact on visual development and so should be considered in patients with multiple medical issues that may fit the diagnosis. A comprehensive eye exam in these patients is thus warranted.
Assuntos
Catarata/congênito , Catarata/etiologia , Anormalidades do Olho/etiologia , Defeitos dos Septos Cardíacos/complicações , Microftalmia/complicações , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Blefaroptose/etiologia , Catarata/complicações , Catarata/genética , Feminino , Defeitos dos Septos Cardíacos/genética , Humanos , Lactente , Microftalmia/genética , Estudos RetrospectivosRESUMO
Primary prostatic adenocarcinoma (pPC) undergoes genomic evolution secondary to therapy-related selection pressures as it transitions to metastatic noncastrate (mNC-PC) and castrate resistant (mCR-PC) disease. Next generation sequencing results were evaluated for pPC (n = 97), locally advanced disease (involving urinary bladder/rectum, n = 12), mNC-PC (n = 21), and mCR-PC (n = 54). We identified enrichment of TP53 alterations in high-grade pPC, TP53/RB1 alterations in HGNE disease, and AR alterations in metastatic and castrate resistant disease. Actionable alterations (MSI-H phenotype and HRR genes) were identified in approximately a fifth of all cases. These results help elucidate the landscape of genomic alterations across the clinical spectrum of prostate cancer.