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Genetic screening for susceptibility to depression: can we and should we?

OBJECTIVE: To summarize current knowledge about genetic susceptibility to mood disorders and examine ethical and policy issues that will need to be addressed if robustly replicated susceptibility alleles lead to proposals to screen and intervene with persons at increased genetic risk of developing mood disorders. METHOD: Empirical studies and reviews of the genetics of unipolar and bipolar depression were collected via MEDLINE and psycINFO database searches. RESULTS: A number of candidate genes for depression have been identified, each of which increases the risk of mood disorders two- or threefold. None of the associations between these alleles and mood disorders have been consistently reported to date. CONCLUSIONS: Screening the population for genetic susceptibility to mood disorders is unlikely to be a practically useful policy (given plausible assumptions). Until there are effective treatments for persons at increased risk, screening is arguably unethical. Screening within affected families to advise on risks of developing depression would entail screening children and adolescents, raising potentially serious ethical issues of consent and stigmatization. Genetic research on depression should continue under appropriate ethical guidelines that protect the interests of research participants.

Adolescent↗
PubMed2001

A DNA microarray-based genetic screen for nonhomologous end-joining mutants in Saccharomyces cerevisiae.

We describe a microarray-based screen performed by imposing different genetic selections on thousands of yeast mutants in parallel, representing most genes in the yeast genome. The presence or absence of mutants was detected by oligonucleotide arrays that hybridize to 20-nucleotide "barcodes." We used this method to screen for components of the nonhomologous end-joining (NHEJ) pathway. Known components of the pathway were identified, as well as a gene not previously known to be involved in NHEJ, NEJ1. Nej1 protein interacts with the amino terminus of LIF1/XRCC4, a recently recognized "guardian of the genome" against cancer.

CCAAT-Binding Factor↗
PubMed1996

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.

Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and beta-thalassemia diseases, have existed for >20 years in Montreal. Four process and outcome variables are reported here: (i) voluntary participation rates in the high-school cohort; (ii) uptake rates for the screening test; (iii) origin of carrier couples seeking the prenatal diagnosis option in the programs; and (iv) change in incidence of the two diseases. Between 1972 and 1992, we screened 14,844 Ashkenazi-Jewish students, identified 521 HexA-deficient carriers (frequency 1:28), reached 89% of the demographic cohort in the educational component of the program, and achieved 67% voluntary participation in the subsequent screening phase. The corresponding data for the beta-thalassemia program are 25,274 students (mainly of Mediterranean origin) representing 67% of the cohort with 61% voluntary participation in the screening phase (693 carriers; frequency 1:36). From demographic data, we deduce that virtually all the carriers identified in the high-school screening program remembered their status, had their partner tested if they did not already know they were a carrier couple, and took up the options for reproductive counseling/prenatal diagnosis. In Montreal, the current origin of all couples using prenatal diagnosis for Tay-Sachs and beta-thalassemia diseases is the corresponding genetic screening/testing program, whereas, at the beginning of the programs, it was always because there was a history of an affected person in the family. Incidence of the two diseases has fallen by 90%-95% over 20 years; the rare new cases are born (with two exceptions) outside the target communities or to nonscreened couples.

Adolescent↗
PubMed2026

Genetic screening of children for familial hypercholesterolaemia: the VRONI study.

BACKGROUND AND AIMS: The role of genetic testing as part of universal screening programmes for familial hypercholesterolaemia (FH) in children is not well defined. Here, a two-step approach to identify children carrying FH-causing variants was investigated. METHODS: In this study from Southern Germany, paediatricians were invited to offer FH screening to all children aged 4.8-14.9 years at routine paediatric examinations. The FH screening programme began in September 2020 in Bavaria and has involved up to 480 paediatricians. It included biochemical and genetic testing using 0.2 mL of blood taken from a fingertip. In case of low-density lipoprotein cholesterol (LDL-C) serum concentration ≥3.36 mmol/L (≥130 mg/dL), FH-causing variants were determined in the same sample with a focused panel covering most frequent variants (n = 48) and sequencing of relevant genes. RESULTS: Out of 25 431 children screened so far, 1689 children had an LDL-C ≥ 3.36 mmol/L (>130 mg/dL), which defined this concentration as the 93rd percentile. Pathogenic variants were identified by the focused panel in 157 and by next-generation sequencing in 283 children, respectively. While 17% (283/1670) of all genetically analysed children tested positive, the fraction of individuals with FH-causing variants increased across the spectrum of LDL-C serum concentrations from 4.7% (23/492) at 3.36-3.49 mmol/L (130-135 mg/dL) to 78.6% (81/103) above 5.17 mmol/L (200 mg/dL). Overall, the prevalence of FH-causing variants was high (1:90). One reason was a founder variant (n = 63) within the LDLR gene, found 40 times more frequent than European average. The analysis of recruitment data revealed significant ascertainment bias, with lower recruitment rate practices exhibiting higher prevalence. After adjustment for the bias using a generalized linear mixed model, the predicted prevalence was 1 in 163 (0.61%), which is highly consistent with large-scale genomic benchmarks as gnomAD (1:165, n = 622 057) and the UK Biobank (1:176, n = 48 741). CONCLUSIONS: The prevalence of FH determined in this study is significantly higher than previously published estimates (∼1:250), highlighting the importance of this condition for public health and supporting calls for a national paediatric screening programme, given the availability of effective treatment options. For children between 5 and 15 years, biochemical screening is an effective way to select patients for genetic testing, with sequencing of candidate genes being superior to variant screening. In summary, the VRONI study demonstrates the feasibility and efficacy of a combined biochemical and genetic screening for FH in children.

Humans↗
PubMed2004

Factors affecting mothers' knowledge of genetic screening.

OBJECTIVE: To evaluate mothers' knowledge of terms used in genetic counselling and their participation in Down syndrome and newborn screening. SETTING: An obstetric tertiary referral hospital in Australia. POPULATION: A total of 232 consecutive women delivering a liveborn baby. METHODS: Participants were interviewed within 24 h of blood being taken from their baby by the heel prick test for the newborn screen. Non-English speaking women were included using medical interpreters. The questionnaire assessed knowledge of terms used in genetic counselling for Down syndrome and newborn screening. A second researcher, blinded to subject demographics, scored questionnaires using a predefined scoring system. MAIN OUTCOME: Demographic factors affecting knowledge and knowledge of Down syndrome and newborn screening test uptake. RESULTS: A total of 200 women consented to participate in the present study (86.2%). New mothers had limited knowledge of genetic disease (median: 4/15, interquartile range: 2-8). In multivariate analysis, Caucasian ethnic background, English as the first language, higher level of education, and knowledge of family history were significant associations of higher knowledge scores (all P <0.006). The majority of participants who had Down syndrome testing (54%) were aware that they had done so (51.5%; kappa=90.9%). In multivariate analysis age >35 years, English as a first language and non-married status were associated with increased test uptake. In contrast, only 26.5% of participants knew that their child had undergone the newborn screen, despite it having been carried out on 98% of babies (kappa=1.5%). CONCLUSION: Newborn screening practices may need to be reviewed.

Adult↗
PubMed1995

Genetic screening to identify the gene carrier in Italian and German kindreds affected by multiple endocrine neoplasia type 1 (MEN 1) syndrome.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited disorder characterized by parathyroid hyperplasia, anterior pituitary adenomas and neoplasms of the endocrine cells of the gastroenteric tract. It has been established that also other tissues exhibit excessive proliferation associated to the MEN 1 syndrome: carcinoids (bronchial and intestinal), lipomas (visceral and cutaneous), thyroid adenomas and goiter, and adrenal gland cortex adenomas. The men 1 gene has been mapped by genetic studies to the long arm of human chromosome 11, region q12-13. Genetic analysis of families and tumoral deletion mapping made possible to narrow the men 1 region to a 5 cM interval on chromosome 11q12-13. Thirteen marker complexes (17 DNA probes) were found to be linked to the men 1 gene and they span a 14% meiotic recombination with the men 1 locus in the middle. We report a genetic study on 103 subjects from 7 collected MEN 1-kindreds, six Italian and one German, including 30 affected individuals. By linkage analysis to 9 DNA markers (10 DNA probes) of the chromosome region where the men 1 gene maps (11q12-13), we identified 10 mutant gene carriers. The predicted MEN 1 diagnosis was clinically confirmed for 2 of these identified carriers. A predictive accuracy of this genetic test can reach up to 99.5% when it is possible to exclude meiotic crossing-over between the analyzed DNA markers and the disease locus.

Adult↗
PubMed1996

Application of genetic screening in families with hereditary medullary thyroid carcinoma.

In 34 families out of 35 with hereditary medullary thyroid cancer a mutation in the RET proto-ongene could be identified. In 84 family members gene carrier state could be proven, in 75 family members gene carrier state could be excluded. The majority of gene carriers (67 out of 84) were symptomatic while 17 gene carriers were diagnosed in a presymptomatic state. 9 of the 17 presymptomatic gene carriers had prophylactic thyroidectomy. On histological examination C-cell hyperplasia or multifocal microcarcinomas could be proven. In one of our families with familial MTC no germline mutation in the RET gene could be detected. In this family pentagastrintests and indirect genotyping are necessary. Four family members of MEN 2A families have had thyroidectomy on the basis of pentagastrin testing and now proved not to be gene carriers. The application of genetic testing in families with hereditary thyroid carcinoma has further improved management in these families - it is the first step in the evaluation of family members at risk.

Adolescent↗