Examination: The patient was “entirely focused on physical symptoms…easily distractible…and manipulative.” She stated and implied that the physicians’ questions regarding the neurologic nature of her symptoms represented “a lack of neurologic expertise.” She displayed fluctuating signs, including give-way weakness, positive Hoover sign, and cramping of the right hand, but no consistent agonist-antagonist contraction, as well as variable foot inversion during walking. The clinical presentation “suggested a functional movement disorder.”
Genetic testing: The patient presented a three-year-old genetic report conducted by a certified genetic laboratory reporting heterozygous mutations in the GCH1 and the TH genes. However, close inspection of the report utilizing detailed typographic analysis revealed that the initial report was actually negative and the patient had forged it to feign unspecified mutations in both genes. Independent genetic testing did not reveal mutations in either gene.
The authors called the case “instructive and important” because it “illustrates the enormous relevance and weight of genetic testing” — i.e., if a genetic test is positive, it is assumed that the problems must be genetic.
The authors’ perception that clinicians utilize genetic testing as an important component of their clinical decision-making is supported by a recent study of 134 chronic non-cancer pain patients genotyped for pain perception-related catechol-O-methyltransferase haplotypes.6 The study found that physicians adjusted treatment plans for close to half of patients, based on genetic testing results, and that they perceived the genetic test results as consistent with patient pain levels in 85% of cases.6
Zittel et al added that the case report suggests that genetic reports without clinical context are potentially misleading. Lastly, the case “demonstrates increasing levels of education of our patients, with respect to medical-genetic details as well as electronic text document processing.”
They urged laboratories to “consider establishing technical measures in order to protect the integrity of genetic reports, particularly in light of the use of electronic signatures and related tools.” And they noted that their case “highlights the need for interdisciplinary patient assessment, particularly for patients with rare and unusual diseases.”
The authors concluded by stating that advances in genetics “pose challenging clinical problems, which…can only be tackled by fostering clinical acumen.”
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