There are approximately 250 direct to consumer (DTC) genetic testing companies marketing different testing options such as genetic health risk, carrier status, ancestry, wellness, traits, noninvasive prenatal genetic testing, athleticism, and many others. As a result, choosing the most appropriate test may be daunting when compared with a focused genetic test ordered by a clinician. A wealth of information may be discovered and care must be taken by both consumers and clinicians when deciphering test results. This column highlights considerations when proceeding forward with a DTC genetic test.
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| http://dx.doi.org/10.1097/JXX.0000000000000211 | DOI Listing |
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Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFEctopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.
JCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
View Article and Find Full Text PDFGenetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant.
Mol Genet Metab Rep
March 2025
Newborn Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China.
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the gene.
Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing.
Role of neck dissections in the management of carotid body tumors.
Laryngoscope Investig Otolaryngol
February 2025
Division of Otolaryngology - Head and Neck Surgery, Department of Surgery Dalhousie University Halifax Nova Scotia Canada.
Objective: Carotid body tumors (CBTs) are rare neoplasms of the paraganglia at the carotid bifurcation. While typically benign, CBTs occasionally exhibit malignancy, metastasizing to nearby lymph nodes. Histopathologic analysis alone is insufficient to confirm malignancy, requiring metastases to non-neuroendocrine tissue for a definitive diagnosis.
View Article and Find Full Text PDFNanotherapeutic delivery of antibiotic cocktail enhances intra-macrophage killing of .
Front Antibiot
July 2023
Department of Veterinary Microbiology and Preventive Medicine, Iowa State University, Ames, IA, United States.
is a waterborne pathogen responsible for tuberculosis-like infections in cold-blooded animals and is an opportunistic pathogen in humans. is the closest genetic relative of the complex and is a reliable surrogate for drug susceptibility testing. We synthesized and evaluated two nanoparticle (NP) formulations for compatibility with rifampicin, isoniazid, pyrazinamide, and ethambutol (PIRE), the front-line antimycobacterial drugs used in combination against active tuberculosis infections.
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