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This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. Family history plays a critical role in assessing the risk of inherited medical conditions and single gene disorders. Several methods have been established to obtain family medical histories, each with its own advantages and dis-advantages. Another family history assessment tool, commonly used by genetics professionals, is the pedigree.
Modified from the National Coalition for Health Professional Education in Genetics (NCHPEG). The screening tool selected should be tailored to the practice setting and patient population, taking into consideration patient education level and cultural competence.
Women often discuss their pregnancy plans with their obstetrician–gynecologist before conception. Any genetic counseling and testing that can be completed before conception is beneficial to the couple, allowing a broader array of options and more time for decision making. A patient who has had a past adverse pregnancy outcome or has a family history of other adverse pregnancy outcomes, such as miscarriage, preterm birth, a newborn screening test result indicating an abnormality, or birth defects, might be at increased risk of these disorders. Some family histories show obvious evidence of cancer risk, such as a family in which there are several members with early-onset breast cancer or colon cancer. Adoption and limited family size might trigger a lower threshold in detecting family history. Family history information should be reviewed and updated regularly, especially when there are significant changes to family history. Where appropriate, further evaluation should be considered for positive responses, with referral to genetic services as needed. Copyright March 2011 by the American College of Obstetricians and Gynecologists, 409 12th Street, SW, PO Box 96920, Washington, DC 20090-6920.
Certain types of cancer, such as breast cancer and colon cancer, appear more frequently in some families, as do some adverse birth outcomes.
The health care provider may decide to complete a detailed pedigree or refer the patient to a genetics professional for further evaluation.
Whether the pedigree or questionnaire is used, it is important to review and update the family history periodically for new diagnoses within the family and throughout pregnancy as appropriate. The preconception period is an ideal time to provide personalized recommendations based on family history.
Couples may decide not to conceive, or they may consider using a gamete donor or obtaining a preimplantation genetic diagnosis if available.
Because both genetic and environmental factors may contribute to these outcomes, advising a patient that she is at increased risk of an adverse pregnancy outcome based on family history might motivate her to reduce her environmental risk by, for example, stopping smoking or achieving a healthy weight (8).


However, these disorders often have complex genetic–environmental interactions for which environmental modifications can improve the outcome or delay the onset of symptoms (5).
In assessing family history of cancer risk, it is important to check for evidence of cancer that might be linked to a single underlying genetic cause, such as Lynch syndrome, in which colon, endometrial, ovarian, urinary, or gastrointestinal cancer may be associated with a single familial gene mutation. The proband, or patient noted in generation III-6, is at increased risk of developing type 2 diabetes not only because of her family history of the disease but also because of her development of gestational diabetes in her previous pregnancy. Referral to these resources and web sites does not imply the endorsement of the American College of Obstetricians and Gynecologists.
Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. Neither the service provider nor the domain owner maintain any relationship with the advertisers.
Several methods have been established to obtain family medical histories, including the family history questionnaire or checklist and the pedigree. Coronary artery disease, type 2 diabetes mellitus, depression, and thrombophilias also have familial tendencies. Having the patient complete the questionnaire at home allows extra time for the patient to contact family members and provide more accurate information. A pedigree ideally shows at least three generations and involves the use of standardized symbols, which clearly mark individuals affected with a specific diagnosis to allow for easy identification (see Fig. A family history screening tool will allow the health care provider to stratify levels of risk (5). The preconception consultation is also an optimal time to review family history and discuss with a couple the option of undergoing carrier screening for genetic conditions. For example, diet changes, weight loss, exercise, and glucose monitoring may improve the outcome for an individual with a family history of type 2 diabetes mellitus. This patient should be counseled not only about maintaining an appropriate diet and exercise routine to lower her risk but also about obtaining an earlier glucose screening in her current pregnancy. Further, the American College of Obstetricians and Gynecologists does not endorse any commercial products that may be advertised or available from these organizations or on these web sites. No part of this publication may be reproduced, stored in a retrieval system, posted on the Internet, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without prior written permission from the publisher. In case of trademark issues please contact the domain owner directly (contact information can be found in whois). The screening tool selected should be tailored to the practice setting and patient population. Direct patient questioning permits clarification of medical terminology that may be unclear to the patient.


Moreover, the use of a family history screening tool (pedigree or questionnaire) has been shown to increase the likelihood of detecting a patient at high risk of developing an inherited medical condition by 20% compared with medical record review alone (7). It is also an opportunity to address any medication concerns before pregnancy (eg, the importance of taking a folic acid supplement and avoiding medications such as angiotensin-converting enzyme inhibitors) and to ensure that medical conditions are being carefully evaluated.
Similarly, individuals at risk of cardiovascular disease can benefit from environmental modifications, such as achieving normal blood pressure and cholesterol levels, and those at risk of osteoporosis can undertake calcium supplementation, weight bearing exercise, and bone density screening to improve their long-term bone health. Requests for authorization to make photocopies should be directed to: Copyright Clearance Center, 222 Rosewood Drive, Danvers, MA 01923, (978) 750-8400. It is recommended that all women receive a family history evaluation as a screening tool for inherited risk. Any positive responses on the questionnaire should be followed up by the health care provider to obtain more detail, including the relationship of the affected family member(s) to the patient, exact diagnosis, age of onset, and severity of disease (2). The pedigree may visibly assist in determining the size of the family and the mode of inheritance of a specific condition, and it may facilitate identification of members at increased risk of developing the condition (see Box 1).
It is important to obtain the family and medical history of both the patient and her partner, including their ethnic backgrounds, any adverse pregnancy outcomes as a couple or with other partners, and any known causes of infertility if applicable. The exclusion of a source or web site does not reflect the quality of that source or web site. The goal of this initiative is to educate both health care providers and patients about the value of collecting a family history as a screening tool and to increase its use and effectiveness in clinical care by simplifying the collection process and analysis of the family history (1).
Positive responses will need to be followed up by performance of appropriate risk assessment, testing, and genetic counseling if needed. Where appropriate, further evaluation should be considered for positive responses, with referral to genetic testing and counseling as needed.
Over the past 20 years, the Human Genome Project has afforded us a better understanding of the effect of genetic variation on health and disease. If any genetic testing has been performed on family members, the results should be indicated on the pedigree. This has furthered research in identifying genotype–phenotype correlations and enhanced the ability to predict those at risk of developing inherited medical conditions.
The ethnic background of each grandparent should be listed as well as any known consanguinity (3). With increased awareness of the importance of using family history as a screening tool and of the value of preventive measures and increased surveillance, there is hope for improved outcomes.
A general inquiry about the more distant relatives should be made in case there is a possible X-linked disorder or autosomal dominant disorder with reduced penetrance (4).



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Comments

  1. XAKER

    Any diabetic knows this – serious conditions such as Alzheimer's and heart disease but on the.

    20.06.2015

  2. ROMAN_OFICERA

    Use as gasoline, but glucose is the physique's.

    20.06.2015