The clinical content of preconception care: genetics and genomics

Solomon, Benjamin D.; Jack, Brian W.; Feero, W. Gregory

doi:10.1016/j.ajog.2008.09.870

Cited by 27 publications

(14 citation statements)

References 30 publications

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“…4,5 It is indeed widely recognized that preconception interventions are most effective in managing and reducing reproductive risks and warrant a proactive strategy to maximize their potential impact. 11 Other original results of our study are worth mentioning. The percentage of newly identified genetic risks was similar in Italian and non-Italian women.…”

Section: Discussionmentioning

confidence: 81%

“…During pregnancy significant organizational challenges are faced, and higher resource consumption and lower counselors' satisfaction may be observed . It is indeed widely recognized that preconception interventions are most effective in managing and reducing reproductive risks and warrant a proactive strategy to maximize their potential impact …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

Pompilii

Astolfi²,

Calabrese³

et al. 2013

Prenat Diagn

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show abstract

Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

Pompilii

Astolfi²,

Calabrese³

et al. 2013

Prenat Diagn

View full text Add to dashboard Cite

show abstract

“…Additionally, only 28% of physicians who offered genetic screening/testing indicated that family history was a factor that influenced their decision. Our respondents may have interpreted the vignette to suggest that the patient’s family history of genetic disorders was negative, but these findings still highlight that emphasis of family history as a powerful risk assessment tool and indicator for genetic testing is needed [33,34]. Finally, our results also speak to the need to clarify existing guidelines for carrier screening, both in terms of how they describe targeted population groups and how they are interpreted and applied by physicians.…”

Section: Discussionmentioning

confidence: 91%

Patient Physical Characteristics and Primary Care Physician Decision Making in Preconception Genetic Screening

Bonham

Knerr

Feero

et al. 2009

Public Health Genomics

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Background: There has been growing emphasis on preconception care as a strategy to improve maternal and child health since the 1980s. Increasingly, development of genetic tests will require primary care providers to make decisions about preconception genetic screening. Limited research has been conducted on how primary care providers interpret patients’ characteristics and use constructs, such as ethnicity and race, to decide whom to offer preconception genetic screening. Objective: This report assessed the influence of patient characteristics on decisions to offer preconception genetic screening. Methods: A web-based survey of family physicians was conducted. Physicians reviewed a clinical vignette that was accompanied by a picture of either a black or a white patient. Physicians indicated whether they would offer genetic screening, and if yes, what tests they would offer and what factors influenced their decisions. Results: The majority (69.2%) of physicians reported that they would not offer genetic screening. Respondents who reviewed the vignette accompanied by a picture of the black patient were more likely to offer screening (35% vs. 26%, p = 0.0034) and rated race as more important to their decision to offer testing than those who viewed the picture of the white patient (76% vs. 49%, p < 0.0001). Conclusions: Our findings suggest that patient race is important to physicians when making decisions about preconception genetic testing and that decision making is influenced by patients’ physical characteristics. The reticence of physicians in this sample to offer preconception screening is an important finding for public health and clinical practice.

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“…Parents of patients with rare diseases may be at risk of genetic diseases or other problems that require accurate evaluation and a tailored preconception counseling [20]. We recently conducted a study on the validity and reliability of web information on preconception recommendations in which we found that valid and complete information is rarely found on the web [21].…”

Section: Discussionmentioning

confidence: 99%

The internet user profile of Italian families of patients with rare diseases: a web survey

Tozzi

Mingarelli

Agricola

et al. 2013

Orphanet J Rare Dis

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BackgroundThe use of the Internet for searching and sharing health information and for health care interactions may have a great potential for families of children affected with rare diseases. We conducted an online survey among Italian families of patients with rare diseases with the objective to describe their Internet user profile, and to explore how Internet use affects their health decisions.MethodsAll members of UNIAMIO FIMR, a federation of associations of patients with rare diseases, were invited via mail to participate in an online questionnaire including questions on socio-demographic and clinical information, Internet use with a specific focus on health, and impact of web information on health behaviors. Logistic regression models were used to explore the effect of socio-demographic variables and Internet user profile on dependent variables representing the impact of web information on health behaviors. Multiple imputation by chained equations was applied.ResultsA total of 516 parents of patients with rare diseases completed the online questionnaire. Mean age was 43 years. 87% of respondents accessed the Internet daily, 40% through their smartphones. 99% had an email account, 71% had a Facebook account. 66% participate in an online forum on health. 99% searched for information on disease characteristics, 93% on therapy, 89% on diagnosis, 63% on alternative therapies, 62% on nutrition and 54% on future pregnancies. 82% stated that web information increased comprehension of the disease, 65% that it improved management of the disease. For 52% web information increased his or her anxiety. 62% recognized diagnosis, 69% discussed online information with their physician. People participating in forums more frequently stated that Internet information was useful for recognizing their child’s disease (OR 1.68; 95%CI 1.08-2.63) and for improving its management (OR 1.77; 95%CI 1.11-2.81).ConclusionItalian parents of patients with rare diseases are active Internet users, engaged in information search and in online communities.Physicians, health care facilities and health agencies have a great opportunity to engage in online interactions for empowering families of patients of children affected with rare diseases.

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The clinical content of preconception care: genetics and genomics

Cited by 27 publications

References 30 publications

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

Patient Physical Characteristics and Primary Care Physician Decision Making in Preconception Genetic Screening

The internet user profile of Italian families of patients with rare diseases: a web survey

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