Why are pedigrees important in nursing assessment

The most useful family history includes medical, developmental, and pregnancy outcome information on first-, second-, and third-degree relatives. Standard symbols and diagrams allow rapid attribution of diseases to particular branches of the family Figure 1 Having two relatives from the same side of the family affected with cancer one with endometrial cancer and the other with colon cancer increases suspicion for hereditary nonpolyposis colon cancer an inherited form of colon cancer more than if one relative was from the paternal side of the family and the other from the maternal side.

Nieces and nephews. Medical information often is not known because of generational, cultural, or health literacy issues. For example, older relatives mistakenly may believe that discussion of a cancer diagnosis is futile, because in the past there was not effective treatment.

A couple planning to have children may not know the relevance of inquiring about previous miscarriages in the family, and family members may not volunteer this emotionally sensitive information. Conditions that are thought to occur sporadically actually could be inherited. For example, a family history of multiple relatives with Down syndrome suggests an inherited translocation, not sporadic non-disjunction. Therefore, encouraging ascertainment of health information for three generations of relatives is warranted.

Consanguinity, the shared relationship of a common ancestor, is frequent in many cultures and should be considered in the evaluation of a patient with unusual symptoms or those suggestive of a rare disease. Persons from cultures within which intermarriage remains common share a greater proportion of genes. In Iraq, for example, A single gene may have genetic variations whose frequencies differ depending on ancestral origin. A low mean corpuscular volume and normal iron studies in a patient without chronic disease signals a diagnosis of thalassemia trait.

If a patient and partner with these findings are certain that their ancestors were from Africa, they have a very low likelihood of having a clinically affected child. But if the patient or partner has an ancestor from southeast Asia, there is an increased chance of thalassemia H or even fatal hydrops in their child. Many diseases are more prevalent in certain ancestral groups. For example, persons of Ashkenazi Jewish or Muslim Arabic origin share odds of one in four for carrying a defective gene for familial Mediterranean fever.

The recall of spontaneous abortions, stillbirths, illnesses, and deaths of family members may evoke strong emotional responses in patients. Feelings of guilt and blame are not unusual in families in which several relatives are affected by the same condition. Visualizing the family history in pictorial form may clarify risks to a patient that had not been appreciated previously.

Establishing a relationship with a geneticist or genetic counselor may be helpful, although genetics professionals are not widely available. Extra clinic time and the assistance of mental health professionals may be required. Relatives sometimes may be identified who have significant risk for a disease and in whom early intervention may improve outcomes. The patient should be encouraged to notify these family members of their risk and refer them to a physician.

The exact duty of the physician in these instances often is untested, particularly given the restrictions of the Health Insurance Portability and Accountability Act, and is subject to individual state court interpretation. Therefore, disclosure to other family members must be considered carefully with respect to privacy and weighed against a duty to warn. In some patients, the family history may be significant enough e.

If the tested gene is a component of a complex disease, a found mutation offers susceptibility or predictive, but not confirmatory, information.

The degree of risk attributable to variations or mutations in a single gene can range from a modest contribution in complex disease to near percent certainty. For example, a variation in the APC gene found in the Ashkenazi Jewish population confers a modest risk of colorectal cancer. Susceptibility or predictive testing for familial cancers may significantly decrease morbidity or mortality by changing the management of the disease. Alternative screening with lower specificity but higher sensitivity may be sought e.

Aggressive screening and surgical prophylaxis may be initiated e. Early surgical intervention may be recommended as preventive measures e.

Predictive testing for noncancerous conditions also may be initiated. If airf low obstruction is found to be incompletely reversible on pulmonary function testing, the patient is a candidate for genetic testing. Family history also may guide diagnosis even when DNA-based genetic testing is not available for an inherited condition.

In a child presenting with a syncopal episode, a family history of syncope prompts consideration of long QT syndrome.

New guidelines incorporating genomic principles into family history assessment are increasing the utility of this powerful clinical tool. Consanguinity: A genetic relationship between persons descended from a common ancestor. Consanguinity increases the likelihood of inheriting identical versions of a given gene. Consultand: Person who seeks genetic counseling for knowledge about a disease or condition in the family.

Predictive genetic testing: Determination of genetic variation in an asymptomatic person to ascertain whether the probability for a given disease or condition is greater than the population-based average. Proband: The person in a family affected with a disease or condition that raises suspicion that other family members may have an increased propensity for the same disease or condition.

Already a member or subscriber? Log in. Interested in AAFP membership? Learn more. Address correspondence to Daniel J. Reprints are not available from the authors. The authors thank Alan E. Guttmacher, M. Rochester, MN. Olsen , S. Creating a nursing vision for leadership in genetics.

Pestka , E. Genetic core competencies: Exploring the implications for psychiatric nursing. Journal of the American Psychiatric Nurses Association , 9, Genomics education for nurses in practice. Journal for Nurses in Staff Development , 20, Educating nurses on genomics. American Journal of Nursing, 2 , 72AC. Spahis , J. Human genetics: Constructing a family pedigree. American Journal of Nursing 7 , Smith , G.

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Find Out More Benefit for Members Members have access to current topic More I could not agree with you more and am encouraged to find that young scholars are investigating diverse minority populations and addressing the gap that you so ably point out.

Continue Reading View all Letters Fisher, RN Abstract This article describes how nurses who previously had not focused on genetic and genomic care realized this knowledge was needed to provide optimal care to their patients and evolved their practice to include essential nursing genetic and genomic competencies.

Vol13No03PPT02 Key words : genetics, genomics, nursing competencies, multidisciplinary team, family pedigrees, family history, patient education, genetic testing, patient satisfaction, Hereditary Hemorrhagic Telangiectasia This article is offered as a guide for other nurses striving to include genetic and genomic nursing competencies in their clinical practice. Hereditary Hemorrhagic Telangiectasia Hereditary hemorrhagic telangiectasia HHT is a genetic disorder of the blood vessels which affects approximately 1 in 5, people.

Illustration of Genetic and Genomic Competencies in Practice The two nurses who work collaboratively as part of the HHT team demonstrate how nurses can actively incorporate the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics into their practice Consensus Panel, Assessment The pedigree is important because it clearly and concisely highlights inheritance patterns which assist in evaluation.

Identification of Issues and Needed Resources After arrival at the Medical Center, each patient completes the scheduled screening tests specific to their identified symptoms and needs. Summary This article has described how HHT nurses at this Medical Center are incorporating genetic and genomic-competency elements into their care.

An Example of Nurses Including Genetics and Genomics Competencies in Practice The following competencies, information about the Consensus Panel, implementation strategies, and resources to support the competencies are located at www. Authors Laura M. References Bayrak-Toydemir , P. Taylor, M. Follow Us on:. Essential Genetics and Genomics Nursing Competencies. Behaviors Demonstrated by the Practicing Nurses. Professional Responsibilities. Identified genomic-related attitudes and values that influenced genomic care.

Encouraged use of the Hereditary Hemorrhagic Telangiectasia website with support services. Incorporate genetic and genomic technologies and information into registered nurse practice. Included genetic testing and electronic pedigrees in practice. Advocated for informed decisions about testing, treatment, and participation in research.

Demonstrate ability to elicit a minimum of three-generation family health history information. Conducted telephone interviews to elicit relevant family history data. Utilized a customized software program to construct pedigrees on all HHT patients. Tailored software pedigree program to highlight multiple risk factors. Analyzed individual risk factors and advised safety measures. Developed patient education materials with genetic and genomic information.

Develop a plan of care that incorporates genetic and genomic assessment information. Included assessment of genetic and genomic data in care plans. Professional Practice Domain: Identification. Developed genomic patient education resources and utilization of the HHT website. Professional Practice Domain: Referral Activities. Facilitate referrals for specialized genetic and genomic services for clients as needed. See Family history resources. Centers for Disease Control and Prevention This site provides links to genetic, genomic, and family health history resources, including case studies, for health professionals.

Genetic Alliance The Genetic Alliance promotes patient awareness of family health history with links to downloadable booklets in English and Spanish to help patients share their histories with clinicians. Surgeon General This patient-friendly website reviews the importance of family history and includes a web-based tool to organize and print family history information.

After all data are gathered, analyze the information to determine patterns of both monogenic and multifactorial disease risks. See Understanding monogenic and multifactorial disorders. A drawn pedigree is a succinct way to visualize this information. Adult-onset monogenic disorders are single-gene disorders with disease signs and symptoms phenotypes that can begin during childhood. More common are multifactorial disorders that result from a combination of genetic and environmental factors.

They occur any time during the lifespan, but tend to be more common in adulthood. Like monogenic disorders, many multifactorial disorders can be identified in multiple family generations. Electronic health records EHRs typically include a family history section for documenting health information over three generations. Ideally, an alert would prompt you to clarify information related to genetic risk factors.

The best EHR would generate a pedigree based on the family history entered. Primary care, cardiology, oncology, and other specialties have published data that specify red flags in their specialty. See Genetic red flags. According to the Genetics in Primary Care Institute, red flags vary based on the assessment. For example, red flags for hereditary cancer will be different from those for a preconception evaluation.

When red flags are identified during the family history, you or the provider should make a referral to a genetic specialist. To help patients and families make informed decisions and to decrease their anxiety, provide information about the reasons for testing, types of tests, and benefits and risks. Benefits of genetic testing include providing a definitive diagnosis, offering information related to familial risk, and identifying prevention , management, and treatment options.

Risks include the potential for discrimination based on genetic results, anxiety over the uncertainty of incidental findings of unknown significance, and the psychological impact of what the findings mean. See Uses of genetic testing. Diagnostic testing confirms or rules out a diagnosis. This testing is indicated when symptoms already exist. Carrier testing determines whether an individual is a carrier of a recessive or X-linked Mendelian disorder.

Prenatal or antenatal testing looks for genetic and chromosomal disorders such as Down syndrome. Be aware of barriers to genetic technology and services, including culture, language, family values, traditions, religion, and health beliefs. In addition, stay up-to-date on current health policy regarding reimbursement for genetic and genomic health services as well as genetic discrimination related to insurance and employment. Local and national resources can help facilitate referrals.

Genetic services are frequently offered by specialty for example, cardiology or oncology , so keep a list of local resources. In addition to genetic and genomic referrals, the personal or family history may require risk-management referrals to appropriate specialists.

You can be instrumental in initiating these referrals and providing follow-up. 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.

All women should have a family history evaluation as a screening tool for inherited risk. Where appropriate, further evaluation should be considered for positive responses, with referral to genetic services as needed. The following resources are for information purposes only. Referral to these resources and web sites does not imply the endorsement of the American College of Obstetricians and Gynecologists.

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.

This list is not meant to be comprehensive. The exclusion of a source or web site does not reflect the quality of that source or web site. Please note that web sites and URLs are subject to change without notice. All rights reserved. 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 per-mission from the publisher.

Family history as a risk assessment tool. Committee Opinion No. American College of Obstetricians and Gynecologists. Obstet Gynecol ;— Bulk pricing was not found for item. Please try reloading page. For additional quantities, please contact sales acog. Patient Education Materials For Patients. Featured Clinical Topics.

Jump to Jump to Close. Search Page. Resources Close. Number Reaffirmed Committee on Genetics This document reflects emerging clinical and scientific advances as of the date issued and is subject to change.