Abstract:
PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and perceived utility of EGT. METHODS:Adult adoptees and non-adoptees completed an anonymous, online survey regarding their interest and motivations for EGT, perceived utility of potential results and willingness to pay for EGT. A validated measure of social identity was included to measure the effects of social identity on testing interest. RESULTS:There were 112 adoptees and 229 non-adoptees included in the study. Adoptees reported greater interest in EGT (OR 5.0, 95% CI 2.2 to 11.3) than non-adoptees. They were motivated by curiosity and a desire to learn information about risks to children and grandchildren more than non-adoptees. Adoptees with higher education and non-adoptees with higher incomes were significantly more likely to spend more on EGT. Adoptees with higher incomes and non-adoptees with higher education were not significantly more likely to spend more. Social identity was a significant mediator between adoption and testing motivation. CONCLUSION:Understanding adoptees' unique motivations and interests in EGT will allow healthcare providers to better address the informational needs and desires of this population. Social identity provides a foundation for recognising adoptees' universal experiences that influence motivations for genetic testing.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Edgar J,Bao A,Maga T,Schwartz M,Yates C,Spencer Sdoi
10.1136/jmedgenet-2020-107503subject
Has Abstractpub_date
2020-12-21 00:00:00eissn
0022-2593issn
1468-6244pii
jmedgenet-2020-107503pub_type
杂志文章abstract:BACKGROUND:Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE:The objective of this study was to identify and characterise pathogenic varian...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105927
更新日期:2020-02-01 00:00:00
abstract::A Familial Ovarian Cancer Register has been established which has recruited primarily through media publicity. In depth semi-structured interviews were carried out with 20 women who had volunteered in order to explore (1) knowledge about the disease, (2) motivations for contacting the Register, and (3) expectations. W...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.575
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102793
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissenc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100542
更新日期:2012-03-01 00:00:00
abstract::Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltra...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.38.7.430
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.081455
更新日期:2011-02-01 00:00:00
abstract::The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.7.431
更新日期:1989-07-01 00:00:00
abstract::Pysiological tremor was measured in 14 pairs of monozygotic twins, 14 pairs of dizygotic twins, and 14 pairs of control subjects matched for age and sex. Postural finger tremor was measured in each pair using a sub-miniature accelerometer and subjecting the amplified signals to power spectral analysis. Significant gen...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.2.162
更新日期:1975-06-01 00:00:00
abstract::DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.31.4.328
更新日期:1994-04-01 00:00:00
abstract::A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.12.854
更新日期:1988-12-01 00:00:00
abstract:BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101378
更新日期:2013-07-01 00:00:00
abstract::The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.12.840
更新日期:1991-12-01 00:00:00
abstract::There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.222
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101016
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.047092
更新日期:2007-07-01 00:00:00
abstract:BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.086751
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND:We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years f...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.037929
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-103956
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE:To identify the causative genetic defect in two sisters presenting with lethal i...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-103361
更新日期:2016-02-01 00:00:00
abstract::We identified a large French-Canadian family with 21 cases of breast cancer, including two affected brothers. Segregation of markers from chromosome 13q in this family showed linkage to the BRCA2 gene locus (lod = 3.67 at D13S289). A number of cancers of other types occurred in this family, including three cases of pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.982
更新日期:1995-12-01 00:00:00
abstract::The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, however, have failed to ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.647
更新日期:1993-08-01 00:00:00
abstract::The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 00:00:00
abstract::A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.3.239
更新日期:1981-06-01 00:00:00
abstract::Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.043315
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients w...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2004.028787
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Smith-Magenis syndrome (SMS) is caused by del(17)(p11.2), including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. In this study, 52...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.068072
更新日期:2010-04-01 00:00:00
abstract::The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.11.965
更新日期:1996-11-01 00:00:00
abstract::Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.2.117
更新日期:1995-02-01 00:00:00
abstract::A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.6.450
更新日期:1983-12-01 00:00:00
abstract::A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new re...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.7.553
更新日期:1995-07-01 00:00:00