Genetic Testing

Publication Title: 
JAMA neurology

IMPORTANCE: Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. OBSERVATIONS: In a Filipino woman with suspected Parkinson disease, we confirmed the presence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA.

Author(s): 
Domingo, Aloysius
Lee, Lillian V.
Br¸ggemann, Norbert
Freimann, Karen
Kaiser, Frank J.
Jamora, Roland D. G.
Rosales, Raymond L.
Klein, Christine
Westenberger, Ana
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD?=?4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families.

Author(s): 
Brucato, Nicolas
DeLisi, Lynn E.
Fisher, Simon E.
Francks, Clyde
Publication Title: 
Neuro Endocrinology Letters

Alzheimer disease (AD) represents a group of multifactorial disorders characterized by a progressive decline of mental faculties eventually leading to dementia and death. Aging of human populations is behind the rapid worldwide increase in the prevalence of AD in recent decades. AD prevention critically depends on reliable AD-predictive genetic testing but its further development is delicately poised at present.

Author(s): 
äer˝, Omar
Povov·, Jana
Balcar, Vladimir J.
Publication Title: 
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

Obesity is a relevant medical problem. Around 60?% of German adults are overweight, 20?% are obese. The hereditary contribution to the variance of body weight is high. Nevertheless, molecular genetic studies have as yet explained only a small part of the inter-individual variability in the body mass index (BMI). Monogenic forms of obesity, in which loss of a single gene product leads to extreme obesity, are very infrequent. Variance of body weight is commonly explained by a complex interplay of many genetic variants (polygenic obesity).

Author(s): 
Hinney, A.
Herrfurth, N.
Schonnop, L.
Volckmar, A.-L.
Publication Title: 
Ethics & Medicine: A Christian Perspective on Issues in Bioethics

Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing. It is important therefore to analyse the philosophical implications of this approach onto the bioethical world, where much disagreement occurs on fundamental issues.

Author(s): 
Mallia, Pierre
ten Have, Henk
Publication Title: 
Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association

OBJECTIVE: Dispositional optimism and risk perceptions are each associated with health-related behaviors and decisions and other outcomes, but little research has examined how these constructs interact, particularly in consequential health contexts. The predictive validity of risk perceptions for health-related information seeking and intentions may be improved by examining dispositional optimism as a moderator, and by testing alternate types of risk perceptions, such as comparative and experiential risk.

Author(s): 
Taber, Jennifer M.
Klein, William M. P.
Ferrer, Rebecca A.
Lewis, Katie L.
Biesecker, Leslie G.
Biesecker, Barbara B.
Publication Title: 
Annals of Behavioral Medicine: A Publication of the Society of Behavioral Medicine

BACKGROUND: Information avoidance is a defensive strategy that undermines receipt of potentially beneficial but threatening health information and may especially occur when threat management resources are unavailable. PURPOSE: We examined whether individual differences in information avoidance predicted intentions to receive genetic sequencing results for preventable and unpreventable (i.e., more threatening) disease and, secondarily, whether threat management resources of self-affirmation or optimism mitigated any effects.

Author(s): 
Taber, Jennifer M.
Klein, William M. P.
Ferrer, Rebecca A.
Lewis, Katie L.
Harris, Peter R.
Shepperd, James A.
Biesecker, Leslie G.
Publication Title: 
Journal of Behavioral Medicine

Many variants that could be returned from genome sequencing may be perceived as ambiguous-lacking reliability, credibility, or adequacy. Little is known about how perceived ambiguity influences thoughts about sequencing results. Participants (n†=†494) in an NIH genome sequencing study completed a baseline survey before sequencing results were available. We examined how perceived ambiguity regarding sequencing results and individual differences in medical ambiguity aversion and tolerance for uncertainty were associated with cognitions and intentions concerning sequencing results.

Author(s): 
Taber, Jennifer M.
Klein, William M. P.
Ferrer, Rebecca A.
Han, Paul K. J.
Lewis, Katie L.
Biesecker, Leslie G.
Biesecker, Barbara B.
Publication Title: 
Fetal Diagnosis and Therapy

This paper examines whether and to what extent parents are morally bound to seek reproductive genetic testing. It is concluded that, with rare exceptions, there is no requirement in parenting to seek or accept reproductive genetic testing if the only actions facilitated by such testing are abortion, selective conception or remaining childless. Commitments to other family members or to oneself can provide other, morally or prudentially compelling reasons to elect genetic testing and selective abortion in these circumstances.

Author(s): 
Faden, Ruth
Publication Title: 
Bioethics

For now, the best way to select a child's genes is to select a potential child who has those genes, using genetic testing and either selective abortion, sperm and egg donors, or selecting embryos for implantation. Some people even wish to select against genes that are only mildly undesirable, or to select for superior genes. I call this selection drift--the standard for acceptable children is creeping upwards.

Author(s): 
Davis, John

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