Genetic risk

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Abstract

In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show the expected pattern of occurrence in families. Factors that amplify genetic risk are also discussed. Of the two methods of genetic risk assessment—history taking and genetic screening—the former method is examined to some extent, and the consequences of an inadequate family history are illustrated in a case report. The paper ends with a review of the sparse literature available on the frequency of a positive family history and an outline of the challenges and rewards faced by professionals when confronted with a positive history.

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Pre-conception counselling in primary care: prevalence of risk factors among couples contemplating pregnancy.

S P Verloove-Vanhorick, Pim Assendelft, Arie van Nes … (2008)

The outcome of pregnancy can be influenced by several risk factors. Women who are informed about these risks during pre-conception counselling (PCC) have an opportunity to take preventive measures in time. Several studies have shown that high-risk populations have a high prevalence of such risk factors. However, prevalence in the general population, which is assumed to be low risk, is largely unknown. We therefore provided a systematic programme of PCC for the general population and studied the prevalence of risk factors using the risk-assessment questionnaire which was part of the PCC. None of the couples reported no risk factors at all and only 2% of the couples reported risk factors for which written information was considered to be sufficient. Therefore, 98% of all couples reported one or more risk factors for which at least personal counselling by a general practitioner (GP) was indicated. Many of these factors were related to an unhealthy lifestyle. Women with a low level of education reported more risk factors than women with a high level of education. There is a great need for PCC as shown by the fact that almost all couples reported risk factors for which personal counselling was indicated. Pre-conception counselling may reduce the risk of adverse pregnancy outcome by enabling couples to avoid these risks. PCC can be provided by GPs, who have the necessary medical knowledge and background information to counsel couples who wish to have a baby.

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Folic acid supplementation and neural tube defect recurrence prevention.

Francis Collins, Scott D Grosse (2007)

It is well established that women who have had a pregnancy affected by a neural tube defect (NTD) have an elevated risk of a subsequent NTD-affected pregnancy and that a high dose (4 mg/day) of folic acid taken around the time of conception prevents most recurrences of NTDs. We reviewed the literature to identify studies that quantify the reduction in risk if women with a prior-NTD affected pregnancy consistently take folic acid before and during a subsequent pregnancy and the effectiveness of NTD recurrence prevention programs in increasing the percentage of women who consistently consume folic acid supplements. A meta-analysis of randomized trials of folic acid for the prevention of recurrent NTDs indicates a 69% reduction in recurrence risk if analyzed on an intention-to-treat basis and an 87% reduction among those women who took supplements prior to the beginning of pregnancy. Observational studies report reductions in recurrence risk of 85% to 100% among women taking folic acid prior to subsequent pregnancies. The percentage of women who take folic acid prior to a subsequent pregnancy has been reported to vary from 33% to 85%, varying with the demographic background and the intensity of folic acid counseling efforts. Targeted folic acid information and counseling provided to women with an NTD-affected pregnancy has been demonstrated to substantially reduce the risk of recurrent NTDs and is feasible to implement on a public health basis.

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Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma.

Charlotte J Dommering, Monique Oers, Henriëtte A. Moll … (2010)

Little is known about the reproductive decision-making process of couples with an increased risk of having a child with retinoblastoma (Rb). A qualitative study was conducted to explore the impact of prospective risk on reproductive decisions, factors influencing these decisions, and the needs of couples with regard to reproductive counselling. Fourteen couples of childbearing age who received genetic counselling between 2002 and 2006 participated in semi-structured interviews in 2008. The risk of having a child with Rb ranged from less than 1% to 50%. In most cases, the diagnosis of Rb influenced subsequent family planning. Prenatal diagnosis was used by two couples, while others refrained from having more children. Reproductive decisions were influenced by the burden of the disease for the patient and family members, the impact of ophthalmological screening under anaesthesia, and couples' perceived risk, which did not always relate to their actual risk. Reproductive choices with regard to the number of children wanted changed over time. Our findings indicate topics to be discussed during genetic counselling of couples at increased risk for a child with Rb. We suggest continued access to genetic counselling also after the initial diagnosis and treatment. © 2010 John Wiley & Sons A/S.

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Author and article information

Contributors

: lp.tenkate@vumc.nl

Journal

Journal ID (nlm-ta): J Community Genet

Journal ID (iso-abbrev): J Community Genet

Title: Journal of Community Genetics

Publisher: Springer-Verlag (Berlin/Heidelberg )

ISSN (Print): 1868-310X

ISSN (Electronic): 1868-6001

Publication date (Electronic): 15 August 2012

Publication date PMC-release: 15 August 2012

Publication date (Print): July 2012

Volume: 3

Issue: 3

Pages: 159-166

Affiliations

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

Article

Publisher ID: 66

DOI: 10.1007/s12687-011-0066-9

PMC ID: 3419290

PubMed ID: 22893513

SO-VID: a0814bac-516c-46d0-bf76-719bf5544c38

History

Date received : 21 July 2011

Date accepted : 4 October 2011

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ScienceOpen disciplines: Genetics

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ScienceOpen disciplines: Genetics

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Genetic risk

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Genomic Prediction

Most cited references 9

Pre-conception counselling in primary care: prevalence of risk factors among couples contemplating pregnancy.

Folic acid supplementation and neural tube defect recurrence prevention.

Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma.

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