How should we construct psychiatric family history scores? A comparison of alternative approaches from the Dunedin Family Health History Study

BackgroundThere is increased interest in assessing the family history of psychiatric disorders for both genetic research and public health screening. It is unclear how best to combine family history reports into an overall score. We compare the predictive validity of different family history scores.MethodProbands from the Dunedin Study (n=981, 51% male) had their family history assessed for nine different conditions. We computed four family history scores for each disorder: (1) a simple dichotomous categorization of whether or not probands had any disordered first-degree relatives; (2) the observed number of disordered first-degree relatives; (3) the proportion of first-degree relatives who are disordered; and (4) Reed's score, which expressed the observed number of disordered first-degree relatives in terms of the number expected given the age and sex of each relative. We compared the strength of association between each family history score and probands' disorder outcome.ResultsEach score produced significant family history associations for all disorders. The scores that took account of the number of disordered relatives within families (i.e. the observed, proportion, and Reed's scores) produced significantly stronger associations than the dichotomous score for conduct disorder, alcohol dependence and smoking. Taking account of family size (i.e. using the proportion or Reed's score) produced stronger family history associations depending on the prevalence of the disorder among family members.ConclusionsDichotomous family history scores can be improved upon by considering the number of disordered relatives in a family and the population prevalence of the disorder.

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Family history of breast cancer (BC) and biological and clinicopathologic features in Uruguayan BC patients

Journal of Clinical Oncology ◽

10.1200/jco.2009.27.15_suppl.e11622 ◽

2009 ◽

Vol 27 (15_suppl) ◽

pp. e11622-e11622

Author(s):

C. Castillo ◽

N. Artagaveytia ◽

S. Mauriz ◽

C. Meyer ◽

G. Sena ◽

...

Keyword(s):

Family History ◽

Axillary Node ◽

Her2 Status ◽

Published Data ◽

Significant Family History ◽

The Family ◽

History Of ◽

Disease Extension ◽

Close Relatives ◽

And Behavior

e11622 Background: Hereditary BC can have a distinct phenotype and behavior in comparison to sporadic BC. The aim of the present study was to investigate if there is any difference in the age at diagnosis, disease extension and biological profile in BC patients (pts) with or without a significant family history of BC. Methods: We retrospectively reviewed clinical charts of BC pts, stage 0- III who had surgery between March 2006 and March 2008. We included pts with known estrogen receptor (ER), progesterone receptor (PR) and HER2 status. The family history was obtained from the clinical charts and confirmed by a telephone interview with a standardized questionnaire. A significant family history of BC was defined by the presence of one of the following criteria: (1) 3 or more BC cases among close relatives, at least one diagnosed before 50 years (2) 2 BC cases among close relatives, at least one diagnosed before 50 years and one of the following: bilateral BC, ovarian cancer diagnosed in the family, male BC, father´s inheritance, Ashkenazi Jewish ancestry Results: 435 pts were identified, with available data on ER/PR and HER2 status in 197 pts. Family history was evaluated in 136 pts (69%) and was classified as significant in 18 (13.2%). Between pts with and without a significant family history of BC cancer there were no difference in the proportion of pts < 50 years old at diagnosis (0.36 vs. 0.39), T3/T4 tumours (0.08 vs. 0.11), axillary node positivity (0.55 vs 0.66), ER/PR+ (0.77 vs. 0.72), HER2 + (0.11 vs. 0.11) and triple negative tumors (0.19 vs 0.17). Conclusions: our data does not show any difference in the main prognostic and predictive factors between operable BC pts with and without a significant family history of BC. These findings are concordant with previous published data about a greater prevalence of BRCA2 mutations in Uruguayan families. No significant financial relationships to disclose.

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Assessing the risk of Alzheimer's disease in first-degree relatives of Alzheimer's disease cases

Psychological Medicine ◽

10.1017/s0033291700026386 ◽

1993 ◽

Vol 23 (4) ◽

pp. 915-923 ◽

Cited By ~ 12

Author(s):

A. E. Korten ◽

A. F. Jorm ◽

A. S. Henderson ◽

G. A. Broe ◽

H. Creasey ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Family History ◽

Cumulative Incidence ◽

Dominant Gene ◽

Lifetime Risk ◽

First Degree Relatives ◽

Familial Form ◽

The Family ◽

History Of

SynopsisFamily history of Alzheimer's disease (AD) was investigated using a telephone re-interview of 99 cases and 116 controls selected from a case–control study of 170 matched pairs. It was found that the family history method used in the initial interview was satisfactory in identifying first-degree relatives and assessing their ages of birth and death, but the number of first-degree relatives suffering from AD was probably under-estimated. Family history of AD was confirmed as a risk factor for AD. Higher estimates of cumulative incidence were obtained among case relatives than among control relatives. No evidence was found to support the hypothesis that a familial form of AD is more common in those with earlier onset AD (before age 75) in those who display early, prominent features of aphasia or apraxia, or that an AD gene may be sex-linked. The curves for cumulative incidence showed no tendency to reach an asymptote, as is implied by the theory that some forms of AD are due to the action of an autosomal dominant gene. Estimates of lifetime risk by age 90 were within the range found by other investigators. Much larger samples of the very old are needed to obtain estimates of total lifetime risk with smaller standard errors.

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Surveillance survey of family history in children with neural tube defects

Journal of Neurosurgery Pediatrics ◽

10.3171/2016.12.peds1668 ◽

2017 ◽

Vol 19 (6) ◽

pp. 690-695 ◽

Cited By ~ 8

Author(s):

Esther B. Dupépé ◽

Daxa M. Patel ◽

Brandon G. Rocque ◽

Betsy Hopson ◽

Anastasia A. Arynchyna ◽

...

Keyword(s):

Risk Factors ◽

Family History ◽

Neural Tube ◽

Neural Tube Defects ◽

Positive Family History ◽

Cns Disorders ◽

Paternal Lineage ◽

First Degree Relatives ◽

The Family ◽

History Of

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

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Endoscopic screening of relatives of patients with colorectal cancer

Gut ◽

10.1136/gut.42.1.71 ◽

1998 ◽

Vol 42 (1) ◽

pp. 71-75 ◽

Cited By ~ 19

Author(s):

L M Hunt ◽

P S Rooney ◽

J D Hardcastle ◽

N C Armitage

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Lower Risk ◽

Flexible Sigmoidoscopy ◽

Familial Risk ◽

Endoscopic Screening ◽

First Degree Relatives ◽

The Family ◽

Satisfactory Method ◽

History Of

Background—The risk of colorectal cancer is higher among relatives of those affected. The neoplastic yield reported from screening such individuals varies enormously between studies and depends on the age and strength of the family history of those screened.Aims—To ascertain the neoplastic yield of endoscopic screening of first degree relatives of patients with colorectal cancer by age and familial risk.Subjects—A total of 330 individuals with a family history of colorectal cancer.Method—Endoscopic screening conducted according to a protocol.Results—Adenomas were found in 12%, and adenomas larger than 1 cm in 8%, of “high risk” individuals screened primarily by colonoscopy. Of those with neoplasia, 26% had lesions at or proximal to the splenic flexure. Neoplasia was found in 9.5% of individuals at lower familial risk, screened primarily by 60 cm flexible sigmoidoscopy, 4% of whom had neoplasia larger than 1 cm in size or cancer. Neoplastic yield was greatest in the fourth and fifth decades in those at highest risk, but increased with age in those at lower risk.Conclusions—For individuals with two or more first degree relatives, or relatives who have developed colorectal cancer at a young age, colonoscopy appears to be the only satisfactory method of screening, but 60 cm flexible sigmoidoscopy may be useful in those at lower levels of risk.

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Challenges to Implementing the Current Pediatric Cholesterol Screening Guidelines Into Practice

PEDIATRICS ◽

10.1542/peds.94.3.296 ◽

1994 ◽

Vol 94 (3) ◽

pp. 296-302 ◽

Cited By ~ 2

Author(s):

Barbara A. Dennison ◽

Paul L. Jenkins ◽

Thomas A. Pearson

Keyword(s):

Family History ◽

Cholesterol Level ◽

Family Health ◽

Single Parent ◽

Family Health History ◽

Blood Cholesterol ◽

Cholesterol Screening ◽

Health History ◽

Cholesterol Levels ◽

History Of

Objective. The Expert Panel on Blood Cholesterol Levels in Children and Adolescents of the National Cholesterol Education Program (NCEP) recommends selective screening of children for high blood cholesterol. We determined the number of children, who, according to the guidelines, should be targeted for cholesterol screening. Design. Population survey. Setting. Permanent household residents in Otsego County, NY. Participants. Total population-based sample of 17 444 households (86.6% response rate) including 44 565 participants, of whom 10 457 were children, aged 2 through 19 years. Main outcome measures. Percent of children qualifying for cholesterol screening under the NCEP Children's Panel guidelines. Results. Children from two-parent families were more likely to have known family history of coronary heart disease (CHD) before 60 years of age (41.8% vs 25.8%, P < .001), and twice as likely as children from single-parent families to have known parental hypercholesterolemia (18.8% vs 9.5%, P < .001). Only 39% of parents reported having had their cholesterol level checked; they were better educated and more likely to have health insurance. Parents with a first-degree relative with CHD before 60 years of age were more likely to report having their cholesterol level checked and to report a high cholesterol level. We calculated that 27% of children (18% of children from single-parent households and 29% of children from two-parent households) would report a known family history of premature CHD (ie, CHD before 55 years of age) and qualify for lipoprotein analysis, and that 11% of children would qualify for total cholesterol screening because of known parental hypercholesterolemia without a family history of premature CHD. Thirty-five percent of children had incomplete or unavailable family health history and/or unknown parental cholesterol status. Conclusions. In this population, 38% of children would be targeted for cholesterol screening, exceeding the estimate of the NCEP Children and Adolescents Panel. The selection process, however, would tend to miss children from single-parent families, children with incomplete family health history, and children whose parents have not had their cholesterol levels measured. The currently recommended pediatric cholesterol screening policy needs to be evaluated further in additional communities and population settings. Alternative cholesterol screening strategies are needed when family health history is incomplete and/or parental cholesterol status is unknown.

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Patient experience with family history tool: analysis of patients’ experience sharing their family health history through patient-computer dialogue in a patient portal

Journal of the American Medical Informatics Association ◽

10.1093/jamia/ocz008 ◽

2019 ◽

Vol 26 (7) ◽

pp. 603-609 ◽

Cited By ~ 1

Author(s):

Adarsha S Bajracharya ◽

Bradley H Crotty ◽

Hollis B Kowoloff ◽

Charles Safran ◽

Warner V Slack

Keyword(s):

Family History ◽

Electronic Health Record ◽

Medical History ◽

Patient Experience ◽

Family Health ◽

Health Record ◽

Patient Portal ◽

Health History ◽

Family Medical History ◽

The Family

Abstract Objective The collection and use of a family health history are important for assessing the patient’s risk of disease, but history taking is often impeded by practical barriers in the office. Provision for patient-computer dialogue, linked with the electronic health record, may enable patients to contribute their history while bypassing these barriers. We sought to assess the patient experience using such a tool. Materials and Methods We linked the family history module of a computer-based medical history to the patient portal of a large academic health system. The interview consisted of 39 primary questions with a predetermined high test-retest reliability. Patients’ results were structured and summarized, and available within their electronic health record. Patients optionally completed a survey about their experience. We inductively analyzed free-text responses collected between 2014 and 2016. Results Among 97 781 patient portal users, 9562 patients accessed and 4223 patients completed the family medical history interview. Of these patients, 1451 completed our survey. Main themes that were identified included (1) patient empowerment, (2) anticipated value, (3) validity concerns, (4) privacy concerns, and (5) reflections on patient-computer dialogue. Patients also provided suggestions for the improvement of future family history tools. Discussion Patients providing their family health information is an example of collaborative electronic work with clinicians and was seen as valuable by those who participated. Concerns related to contextual information and uncertainty need to be addressed. Conclusions Patient-computer dialogue to collect family medical history empowered patients and added perceived value and efficiency to the patient experience of care.

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How is family health history discussed in routine primary healthcare? A qualitative study of archived family doctor consultations

BMJ Open ◽

10.1136/bmjopen-2021-049058 ◽

2021 ◽

Vol 11 (10) ◽

pp. e049058

Author(s):

Sara Filoche ◽

Maria H Stubbe ◽

Rebecca Grainger ◽

Bridget Robson ◽

Karyn Paringatai ◽

...

Keyword(s):

Family History ◽

Family Relationships ◽

Family Doctor ◽

Secondary Analysis ◽

Family Health ◽

Family Health History ◽

Breast Cancer Patients ◽

Health History ◽

The Family ◽

Genetic Medicine

ObjectivesFamily health history underpins genetic medicine. Our study aimed to explore language and patterns of communication relating to family health history observed in interactions between general practitioners (GPs) and their patients within routine primary care consultations.DesignSecondary analysis of patient and GP routine consultation data (n=252).ParticipantsConsultations that included ‘family health history’ were eligible for inclusion (n=58).Primary outcomesA qualitative inductive analysis of the interactions from consultation transcripts.Results46/58 conversations about family health history were initiated by the GP. Most discussions around family history lasted for between approximately 1 to 2 min. Patients were invited to share family health history through one of two ways: non-specific enquiry (eg, by asking the patient about ‘anything that runs in the family’); or specific enquiry where they were asked if they had a ‘strong family history’ in relation to a particular condition, for example, breast cancer. Patients often responded to either approach with a simple no, but fuller negative responses also occurred regularly and typically included an account of some kind (eg, explaining family relationships/dynamics which impeded or prevented the accessibility of information).ConclusionsFamily health history is regarded as a genetic test and is embedded in the sociocultural norms of the patient from whom information is being sought. Our findings highlight that it is more complex than asking simply if ‘anything’ runs in the family. As the collection of family health history is expected to be more routine, it will be important to also consider it from sociocultural perspectives in order to help mitigate any inequities in how family history is collected, and therefore used (or not) in a person’s healthcare. Orientating an enquiry away from ‘anything’ and asking more specific details about particular conditions may help facilitate the dialogue.

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A controlled family history study of bulimia

Psychological Medicine ◽

10.1017/s0033291700000684 ◽

1987 ◽

Vol 17 (4) ◽

pp. 883-890 ◽

Cited By ~ 86

Author(s):

James I. Hudson ◽

Harrison G. Pope ◽

Jeffrey M. Jonas ◽

Deborah Yurgelun-Todd ◽

Frances R. Frankenburg

Keyword(s):

Eating Disorders ◽

Family History ◽

Major Depression ◽

Psychiatric Disorders ◽

Affective Disorder ◽

First Degree Relatives ◽

The Family ◽

Alternative Hypotheses ◽

History Of

SynopsisUsing the family history method, we assessed the morbid risk for psychiatric disorders the first-degree relatives of 69 probands with bulimia, 24 probands with major depression, and nonpsychiatric control probands. The morbid risk for major affective disorder among the first-degree relatives of the bulimic probands was 32%, significantly greater than that found in the nonpsychiatric control probands. The rate of familial major affective disorder was significantly greater in bulimic probands who had a history of major affective disorder themselves than in bulimic probands without such a history - but the latter group, in turn, displayed significantly higher rates than the nonpsychiatric control probands. Eating disorders were slightly, but not significantly, more prevalent in the families of bulimic probands than nonpsychiatric control probands. We present two alternative hypotheses which might explain these findings.

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Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

International Journal of Molecular Sciences ◽

10.3390/ijms22094700 ◽

2021 ◽

Vol 22 (9) ◽

pp. 4700

Author(s):

Michelle M. Monasky ◽

Emanuele Micaglio ◽

Giuseppe Ciconte ◽

Ilaria Rivolta ◽

Valeria Borrelli ◽

...

Keyword(s):

Genetic Testing ◽

Family History ◽

Risk Stratification ◽

Brugada Syndrome ◽

Electrophysiological Study ◽

Functional Characterization ◽

The Family ◽

Novel Variant ◽

History Of ◽

Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

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