Health in the modern world is more than just one’s personal eating and fitness habits. It’s also a matter of one’s family. People know more than ever how their genetics affect their physical and mental wellbeing. 

Medical technologies like EMR unfortunately lag in applying this information in patient diagnosis. To fill this important gap, we’ll be covering what family health history is and its importance, why it’s neglected, and what the healthcare system is doing about it. 

What Is Family Health History?

Family health history (FFH) is defined by the National Institutes of Health as “a record of health information about a person and his or her close relatives.” 

The general rule about FHH is that more is better. A complete record includes information from at least three generations of relatives. The Center for Disease Control (CDC) recommends these be children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. 

A study on family history and EHR published in the American Medical Informatics Association found that the medical, developmental, and pregnancy outcomes of first-, second-, and third-degree relatives are the most useful when constructing an FHH. First-degree relatives like parents, children, and siblings, have 50 percent shared genes with a patient. Second-degree relatives like aunts and uncles, grandparents, half siblings, and nieces and nephews, share 25 percent of genes. Cousins, great-grandparents, and other third-degree relatives share just under 13 percent. Both patients and providers should keep these figures in mind when researching family trees. 

Importance of Family Health History in Patient’s Health Risks

It’s known that certain gene-related medical problems run in families. If a patient has a parent with Huntington’s disease or Neurofibromatosis type 1, there’s a 50 percent chance they will inherit it as well as pass it along to their children. Patients who have one first-degree relative who has had a stroke, diagnosed with type 2 diabetes or cardiovascular disease, are twice at risk than those that don’t. Those chances quadruple if they have more than one affected first-degree relative. 

Patients who have a family history of the following may be at higher risk according to the CDC: 

  • Alzheimer’s disease
  • Arthritis
  • Cancer
  • Dementia
  • Diabetes
  • Heart disease
  • High blood pressure
  • Multiple sclerosis
  • Parkinson’s disease
  • Spina bifida
  • Thyroid disorders

Knowing a patient’s FHH may help improve the chances for early detection of these conditions.

Common environments, habits, and behaviors have an influence on family disease and disorders. These include ethnicities. The US Department of Health and Human Services Office of Minority Health reports there’s a high prevalence of chronic obstructive pulmonary disease,  tuberculosis, and liver disease among Asian-Americans. A similar study by UCSF reports upper respiratory infections, cardiovascular and hypertension, and diabetes as high concerns among Arab-Americans.

Difficulties of Obtaining Family Health Histories

If FHH is so important, why aren’t patient records filled with it? It breaks down into two major reasons.

Patients and FHH: Lots of Legwork

It’s time-consuming to gather one’s FHH. Consider the following:

The patient decides to create a family tree to track their FHH. On it, they must note relatives’ date of birth, age, and diseases and conditions that they have or had. Per the Mayo Clinic and the CDC, these should include details like:

  • alcoholism or drug addiction 
  • cancer 
  • dementia 
  • diabetes 
  • heart disease 
  • high blood pressure 
  • mental illness 
  • osteoporosis 
  • pregnancy complications
  • stroke

Getting relatives to discuss their health issues can be difficult. Topics like mental illness can especially be touchy. This is compounded if the relative is still alive but unavailable. Examples are those who live abroad. One way to get their medical history is to ask other relatives. If that proves difficult, the patient can research baby books or other keepsakes. 

Then there are relatives who have passed away. Patients will have to order their death certificates or medical records to get their health histories. These can provide specifics like age at death, cause of death, as well as ethnic background. That is if they can order them legally. The rules are different for each state in the US, but first-degree family members are often allowed to order copies. Obituaries may also provide some information. 

The US Office of the Surgeon General created a webpage called “My Family Health Portrait” to make it easy for patients to collect this kind of information. The resulting family medical tree can be shared with relatives. It can even be downloaded to take to one’s provider. 

Patients who don’t know much about their relatives or don’t have time to do the research personally can hire companies to help fill out the family tree. They’ll need to know the names of their relatives, though. 

Finally, patients can get their genes tested. Typically, they send a sample of saliva to a DNA testing company. There it’s examined and analyzed. The resulting report can reveal if the patient is more likely to get certain diseases or pass problem genes to their children.

As one can imagine, this is a lot of work. The American Journal of Medical Genetics reports that only 37 percent actively compile such information. This is despite the same survey finding 96 percent of Americans believe knowledge of family medical histories to be “very important” or “somewhat important.” Of those who actually did the legwork, most were likely to be educated women who were married, or previously married, and had a personal history of type 2 diabetes. 

Physicians and FHH: Lack of Support 

Providers and their medical staff do take down some family health history on their medical computers. This is especially true with new patients. However, they cite lack of time and patient’s unreliability as the biggest causes in the collection of FHH information. As Dr. Joshua Schiffman, a pediatric hematologist-oncologist, puts it: 

“Unfortunately, most doctors don’t discuss family histories with their patients, typically because we don’t have enough time during a clinical visit. And when they do, patients are often hard-pressed to remember past one generation or two. We need to make it easier for patients to collect accurate and complete histories, and to do so in a way that provides useful feedback for patients and their doctor about what those histories mean for personal health.”

Schiffman also mentions poor reimbursement, lack of expertise in questioning patients, few  guidelines, inadequate tools, and limited functionality in EMR systems to capture and interpret data as other reasons why it’s difficult to use FHH when diagnosing patients. 

Bringing FHH and EMR Together

The healthcare industry has taken notice of the lack of compatibility of its patient-oriented EMR systems with FHH. To make it easier to bring the two together, research is being pursued in the  following projects:

Varied EMR Entry Portals Project

Brigham and Women’s Hospital, in its project, Integrating Patient Generated Family Health History From Varied Electronic Health Record Entry Portals, proposed to develop three different ways of proactively collecting family history information from patients using computer technology outside of a typical office visit. These tools would be based on the earlier mentioned US Surgeon General’s My Family Health Portrait. 

The tools are:

  • Interactive voice response technology. The participating patient would receive a telephone call by the system. It would greet them by name, authenticate their identity, and ask a list of programmed questions about their family health history. 
  • Tablet computers. Participants in the waiting room would receive a tablet from trained staff. This is most likely a medical tablet. They would input their family history on it. Afterwards, the staff would collect the tablets to send the correct EHR record. 
  • Internet portal. Participating patients would submit their family medical history onto a secure webpage from the comfort of their home.  

Family history data from all three would be transferred and integrated with a patient’s EHR in a large primary care network. Brigham and Women’s Hospital hopes to demonstrate that family history data can be accurately reported by diverse patients using these technologies, and that these data can be integrated to tailor an individual’s health care based on their familial risk.

Family-Centered Care and EHR

In current medicine, patient-centered” care focuses on understanding and incorporating individual patient preferences and values towards achieving their health goals. In contrast, “family-centered” care extends this focus to include those individuals who provide support to the patient and with whom they have a significant familial relationship. Such care is often done in pediatrics through “family-centered rounds,” where providers and medical staff meet with family members to discuss how the family impacts the child.

In the Journal of Patient Experience, Dr. Jonathan Gabbay discussed the creation of a “family-centered EHR” (FC-EHR). In it, he proposes taking the family-centered care model to include adult patients and their family members. An example of this approach would be linking medical records between siblings, spouses, or others in the household. By doing this, for example, a front-desk staff working to schedule a patient for an annual physical examination might, through FC-EHR functionality, be alerted to family members also needing annual care. Similar use-cases could include immunizations as well as family-level medical concerns such as household exposures to COVID-19. 

Gabbay does acknowledge the limitations to such a program like privacy and confidentiality concerns. He suggests creating linked charts that are opt-in or opt-out and have the capabilities of decoupling under certain circumstances.

FHH via Natural Language Process and Machine Learning

As mentioned earlier, many providers and staff take down a patient’s family health history especially if they’re new. Such information is often written in the free text section of clinical notes.

The healthcare industry is looking to identify such information and organize it into meaningful FHH for patients. It is currently doing so through experiments such as the National Natural Language Processing Clinical Challenges. These use both natural language processing algorithms and machine learning to go through the patients’ notes and look for family members and their associated diseases and disorders. While results are promising, the systems are still experimental. 

Closing Comments

Family health history covers diseases and disorders that patients may have inherited from their relatives’ genetic line. By knowing such information, providers can assess risks and start early treatment. Today’s EMR systems and other such tools provide little help in this process. Several groups are looking to fix this by using multiple portals to obtain FHH to scanning a provider’s medical records via NLP and ML. 

If your medical company is looking into using FHH for your EMR, contact a representative from Cybernet. Also follow Cybernet on Facebook, Twitter, and Linkedin to stay up to date on this and other relevant topics.