Preparing Health Professionals for Individualized Medicine

Joseph D McInerney; Emily Edelman; Therese Nissen; Kate Reed; Joan A Scott


Personalized Medicine. 2012;9(5):529-537. 

In This Article

Deficient Education as an Impediment

The BOI report devotes an entire chapter, "Preparing the Workforce," to the education of health professionals as an essential component in a comprehensive strategy to integrate genomic technology into mainstream care. The emphasis on professional education is well taken.

Although the number of evidence-based clinical applications is growing, lack of awareness and genetics-related skills among providers often creates a long lag time between the generation of evidenced-based findings and their integration into practice. For example, since 1997, national policy in the USA has called for clinicians to offer at-risk pregnant women and their partners carrier screening for cystic fibrosis, but a significant number of laboratories and clinicians fail to comply with the guidelines.[8,9] Another study found that although most obstetricians are aware of cystic fibrosis carrier screening, barriers to screening and gaps in knowledge still exist.[10] Similarly, although family health history has long been recognized as an effective and cost-efficient method to screen for disease[11,12] and understand genetic risk,[13] it is not consistently applied in clinical practice. For example, out of a large nationwide sample, only 10% of women with a high risk for hereditary breast cancer, based on family history and national guidelines, had ever discussed the possibility of a genetic evaluation with a healthcare provider.[14]

A confounding factor is the number of genomic tests and applications entering the clinical setting with unknown or questionable clinical validity and utility,[102] which complicates efforts to bring evidence-based genomic medicine to clinical practice. The convergence of rapid advances in genetics, low regulatory barriers for tests to enter the clinical setting, increasing commercialization of genetic testing and slow dissemination of evidence often leaves healthcare providers to their own devices to determine whether a test is appropriate for any given clinical scenario. The result is a perfect storm for inappropriate use of genetic tests. For example, a recent study found that a quarter of 1500 primary care physicians surveyed had ordered BRCA testing for hereditary breast and ovarian cancer syndrome on at least one patient in the last year.[15] Unfortunately, nearly half (45%) of this same group inappropriately identified low-risk patients as candidates for BRCA testing.

In recent reports the US Secretary's Advisory Committee on Genetics, Health, and Society[103] and the US National Human Genome Research Institute (MD, USA)[16] support the BOI report in the assertion that the inconsistent and often poor state of genomics education for health professionals is a rate-limiting factor in the appropriate integration of genetics into mainstream healthcare. Guttmacher et al.[17] and others have identified a number of education-related factors that contribute to the slow pace at which genomics has been incorporated into clinical practice.[16] For those in practice they found the following:

  • Misconceptions about genetics: many healthcare providers still believe that genetic medicine is defined by rare, Mendelian disorders and circumscribed by pediatrics and obstetrics, when in fact genetics increasingly is concerned with the common, chronic diseases that are the daily focus for most health professionals;

  • Lack of knowledge and confidence about genetics: surveys of practicing health professionals demonstrate a lack of basic knowledge about genetics and, often, a lack of confidence to deal with genetics-related issues that arise in the clinical setting;

  • Lack of management and referral guidelines in genetics and genomics: the paucity of evidence-based guidelines related to genetic medicine, and the slow dissemination of those that do exist, impedes clinicians' attention to genetics and raises questions about clinical utility;

  • A dearth of genetics professionals: the low numbers of medical geneticists and genetic counselors in the USA and elsewhere limits the provision of genetic services directly and, furthermore, limits the extent to which other providers have formal and informal access to genetics expertise.