Welcome to the My Reason® Research Program

Who hasn’t wondered about their health? Am I exercising enough? Is a vegetarian diet really better for me? What’s the maximum number of midnight snacks I can sneak into my diet? In questioning your own health, it is important to consider how the health of your relatives may impact it. Does my mom’s diagnosis of breast cancer increase my own risk for cancer? Could I have inherited my dad’s risk for high blood pressure? What was it that Aunt Sally’s granddaughter had?

Knowing more about your family health history can empower you to take better control of your own health, and the health of those you love. This is a guide to putting together the family pieces of your own health puzzle. 

We will cover the following:

• Which members of my family do I talk to?
• What conditions do I ask about?
• How will my health care provider use this information?
• What if I don’t have access to my family health history?

Who do I talk to in my family?

To start, defining “what is family health history” is important. A family health history is a record of health information about a person and close relatives.

Who is a “close relative”? A complete record typically provides health information from three generations of relatives: children, grandchild, siblings (including half-siblings), parents, aunts and uncles, nieces and nephews, grandparents and cousins.

Families often have a historian — that one relative who can tell you the middle names of every relative or who pulls out the family anthology at family get-togethers. This person is also likely to have the health details on various family members, be it Aunt Betty’s chronic bunions or Uncle Andy’s gout. Admittedly, while bunions and gout may be of little to no importance to your personal health, many other conditions certainly can be.

What conditions do I ask about?

• The National Society of Genetic Counselors offers a list of information worth gathering. This includes:

  • Age or date of birth, and cause of death for those who have died
  • Medical problems and approximate age of onset for conditions such as:
    • Diagnosed with cancer under age 50
    • Diagnosed with a “rare” or “aggressive” type of cancer
    • Diagnosed with 10 or more colon polyps
    • Sudden, unexplained death under the age of 50
    • Cardiac interventions (e.g., pacemaker, implantable defibrillator, cardiac bypass surgery, heart transplant) under the age of 50
    • High “bad” cholesterol (LDL), heart attack or stroke under the age of 50
    • Fainted or had a seizure with exercise, excitement or startle that had no identified cause
  • Autism or intellectual disabilities
  • Physical defects (spina bifida, cleft palate, heart defects, etc.)
  • Cancer conditions
  • Cardiac issues
  • Neurological, muscular or skeletal anomalies
  • Diabetes
  • Kidney or liver disease
  • Vision or hearing loss at a young age
  • Abnormal sexual maturation, delayed puberty or fertility issues, including tests for infertility, multiple pregnancy losses or babies who died in infancy
  • Mental health issues
  • Unexplained medical conditions
  • ​Young/early deaths due to known or unknown medical conditions
  • For those who have medical concerns, collecting circumstantial information is helpful, such as whether they smoke, exercise, are overweight, etc.

Is it likely you will obtain all of this information on every one of your relatives? No.

Are you expected to do this in a single session? No.

But it may give you a reason for multiple get-togethers with your Aunt Sue over a slice of her killer apple strudel.

The above list is meant as a guide to give you a sense of the type of information medical professionals find helpful to know about. It is not meant as a To Do List.

How will my health care provider use this information?

Certain factors in one’s family history—early age of onset and multiple family members with the same condition, for instance—can suggest a higher likelihood of developing these conditions. Early identification of risk factors allows you and a health professional the opportunity to take steps to reduce your risk. Sometimes this means making lifestyle changes, and sometimes it means increased monitoring and testing.

Other conditions are strictly genetic and have a more significant impact on your risk for recurrence. Knowing this may influence what you do with this information, be it in terms of educating yourself, obtaining life or disability insurance, or deciding if and how to pursue a pregnancy.

What if I don’t have access to my family health history?

This information may not be the easiest to obtain. But we can help.

Genome Medical has a nationwide network of genetic experts who can assess your concerns regarding your family history and discuss the potential benefits of genetic testing. A Genome Medical genetic counselor will interpret your family history and genetic test results and combine those into a clinical action plan for you and your treating provider. We can support the entire family and help them understand the impact of their family health information as well.

Lastly, sometimes you may just never have access to family health information. Sometimes a person is estranged from their family, a person may be adopted and not know the birth family’s history, or perhaps medical conditions may simply not be discussed among relatives.

While knowing your family health history can empower you to take better control of your own health, there is still a lot of preventative care you can pursue without this information. 

The U.S. Department of Health and Human Services has health screening recommendations for men and women of all ages. In addition, multiple companies offer the option of Proactive Genetic Health Screening, and Genome Medical can help you pursue this if you are interested.

By Lindsay Meyers, MS, LCGC, Genetic Counselor and Cardiovascular Service Lead

The holidays are a time for coming together with family and friends. It’s a time for enjoying a meal with the people you love and sharing stories from the year. You might talk about politics or relationships or school. Will you talk about health?

Whether health and heart disease are on the docket or not, most people can think of at least one person in their family who has had some sort of heart disease. They wonder if this increases their personal risk of heart disease. The short answer? Yes and no.

Understanding the Causes of Genetic Heart Disease

Since heart disease refers to a large group of conditions, from coronary disease (problems with cholesterol blockage in the heart’s arteries) to problems with the heart’s valves or the way the heart beats (arrhythmias), there is not one easy answer. Some forms of heart disease are caused by one single gene alteration passed down in a family, but the vast majority of the time an individual’s heart problem is the result of many factors, including genetic and environmental (like the food we eat or how active we are).

When someone is discussing to heart disease, they are often referring to coronary disease and associated heart attacks–caused by genetic and environmental factors. Now that we are right smack in the middle of the December holiday season, it seems like cookies, cake, and gingerbread men are everywhere we look and new year’s resolutions to lose weight are the topic du jour. Because of that, there is no better time to discuss the interplay of exercise and eating, as well as genetic factors, and how these influence our risk of coronary artery disease (CAD).

Is Coronary Heart Disease Genetic?

While genetics is one of the risk factors is, that alone is usually not enough to cause coronary heart disease.  If someone has a family history of coronary disease, heart attacks, strokes and elevated cholesterol levels, we know this can increase that person’s risk of coronary heart disease.  This is because there can be alterations in our genetic makeup (DNA) that may make one person more likely to develop coronary heart disease, while another person may have genetic alterations that protect them from developing CAD.  If you have a family member with CAD, this increases your risk for having inherited those genetic risk factors.

What Are the Risk Factors of Heart Disease?

The most common ones are listed below; some, like your genetics, are not within our control, but many are.

The factors listed above are by no means an all-encompassing but they do have the greatest impact on an individual’s risk of heart disease. Other factors include excessive alcohol consumption and illicit drug use among others. So while heart disease may be the number one cause of death in the United States, thankfully there are many factors are within your control that can help reduce your risk, including the food we eat and how active we are. So make sure those January goals are heart healthy!

What Can You Do to Reduce Your Risk of Heart Disease?

• Stop smoking. If you are a smoker, talk to your doctor about a plan to help you stop smoking.  Smoking is a significant contributor to the development of CAD.
• Have your lipid levels (cholesterol and triglycerides) checked at least every five years as an adult.  Children are recommended to have their lipids checked once between the ages of 9-12 and again between 17-21 years. Your doctor may recommend more frequent screens if you have a strong family history of CAD.  If you are found to have elevated lipid levels, talk with your doctor about possible diet modifications to help lower your levels, or starting lipid-lowering medications if needed.
• Have your blood pressure checked at least every 2 years if you have had normal blood pressure levels in the past.  If you are found have high blood pressure, talk to your doctor about diet and/or medications to help lower your blood pressure.
• Starting at age 45, have your blood sugar checked at least every 3 years.
• Reduce your salt and saturated fat intake, and try and exercise for at least 30 minutes regularly.

The great thing about taking action to help reduce your risk for coronary heart disease is that is can also help you reduce your risk for diabetes and lower stress levels, as exercise is a known stress reducer.  It can also help reduce your risk for forms of heart disease other than CAD.

What Types of Heart Disease are Genetic?

Even with environmental factors well controlled, some individuals will still have an increased risk for certain types of heart disease.  This is because some forms of heart disease are due to an underlying single genetic cause. While these are the minority of causes of heart disease, it is crucial to identify who is at risk since this can help detect the disease earlier which leads to better outcomes and reduces the risk of a sudden cardiac arrest.

Signs You’re at Risk for Genetic Heart Disease

• Personal or family history of elevated “bad” cholesterol (LDL levels over 190 in adults, over 160 in children)
• Personal or family history of early onset heart attacks or coronary disease (those with stents or bypass surgery).
  • For men, this would be younger than 55 years.
  • For women, early onset is younger than 65 years.
  • Early onset coronary disease is even more suggestive of an inherited condition if the affected person did not have any of the known risk factors listed above.
• A family history of sudden cardiac death or any sudden, unexplained death including single motor vehicle accident or drowning in an otherwise good swimmer.
• Personal and/or family history of fainting (syncope), especially during exercise, excitement or after being startled and without any proceeding symptoms like dizziness or tunnel vision.
• Unexplained seizures
• Personal and/or family history of cardiac interventions at a young age (<50 years), including heart transplants/heart failure, ICDs, pacemakers, aortic replacements
• A personal or family history of any of the following
  • Cardiomyopathy (heart muscle disease) younger than 50 years
  • Long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, or short QT syndrome
  • Aortic dilation/aneurysm or dissection and related conditions, like Marfan syndrome or Loeys-Dietz syndrome

Genetic testing can be done for inherited (genetic) forms of heart disease.  Although there is no cure for heart disease, genetic testing can help identify who is at risk to allow proper screening and/or early treatment/management.  Identifying inherited forms of heart disease early can help prevent sudden cardiac death associated with inherited heart disease.

How Genome Medical Can Help You Understand Your Risk for Genetic Heart Disease

Genome Medical has genetic counselors with expertise in inherited heart disease who can:

• Talk to you about your risk of heart disease,
• Help interpret previous genetic testing, or
• Have a conversation about the risks and benefits of genetic testing for heart disease, if warranted.   

If you’d like to speak to a genetic counselor, click here. If you have questions about the services Genome Medical provides click here.

References

Goff, David C., et al. “2013 ACC/AHA guideline on the assessment of cardiovascular risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines.” Journal of the American College of Cardiology 63.25 Part B (2014): 2935-2959.

Eckel, Robert H., et al. “2013 AHA/ACC guideline on lifestyle management to reduce cardiovascular risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines.” Journal of the American College of Cardiology 63.25 Part B (2014): 2960-2984.

FOR, EXPERT PANEL ON INTEGRATED GUIDELINES, and RISK REDUCTION IN CHILDREN. “Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report.” Pediatrics 128.Suppl 5 (2011): S213.

By Betsy Swope, MS, Certified Genetic Counselor and Reproductive Lead

My favorite Thanksgiving memory is getting to spend time with all my cousins, eating at a separate kids’ table and trying to stay out of trouble. Even though we are all grown now, making new family memories with our own kids, I think fondly back to all the time we were able to spend together. November is Family Health History month and Thanksgiving is a valuable opportunity to collect your family health history. As you look around your Thanksgiving table, noting generations of family together (behaving or not) , I challenge you to start the conversation. Tell all your loved ones that it is time to start a new tradition — one that can create health and wellness — by discovering family history.

What is a Family Health History?

Considered the “first genetic screen,” a family health history is a record of health information about a person and his or her close relatives, which includes type of health condition and age of diagnosis. A complete record typically provides health information from three generations of relatives: children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.

What are the benefits of knowing your family health history?

Some conditions, such as cancer and cardiac disease, are common among the general population. However, certain factors in one’s family history—early age of onset and multiple family members with the same condition, for instance—can suggest a higher likelihood of developing these conditions. Knowing these risk factors early can guide appropriate screening and surveillance measures into your health care.

Why is family health history important and how can you use it to improve your health?

Early identification of risk factors allows you and a health professional the opportunity to take steps to reduce your risk. Sometimes this means making lifestyle changes, and sometimes it means increased monitoring and testing. Lastly, a family history can identify potential health problems that an individual may be at increased risk for in the future.

How can you collect your family health history?

Just start asking questions! Do your family members have any medical problems? How old were they when they received their diagnosis? If you don’t know your full family history, start with your immediate family (brothers, sisters, parents or grandparents). If available, try to ask for medical records for the most accurate information.

Once you’ve gathered the information, it’s a good idea to keep it up-to-date, and to share it with a healthcare professional at your yearly well visits. There are numerous online tools to help you get started, and to track your family history:

• U.S. Surgeon General’s My Family Health Portrait

• Does It Run In the Family? Online Tool

• Talk Health History Campaign

Since most of us have some family history of cancer or cardiac disease, finding out about the following medical history scenarios will help your provider determine if your family history places you at a higher risk:

Cardiac diseases:

• Sudden, unexplained death under the age of 50

• Cardiac interventions (eg. pacemaker, implantable defibrillator, cardiac bypass surgery, heart transplant) under the age of 50

• High “bad” cholesterol (LDL), heart attack or stroke under the age of 50

• Fainted or had a seizure with exercise, excitement or startle that had no identified cause

Cancer conditions:

• Diagnosed with cancer under age 50

• Diagnosed with ovarian, fallopian tube, peritoneal or male breast cancer

• Diagnosed with a “rare” or “aggressive” type of cancer?

• Diagnosed with 10 or more colon polyps?

How can genetic counselors help you interpret your family health history?

Anyone with concerns about their family health history can benefit from speaking to a genetic counselor. During a consultation, the genetic counselor will:

1. Get to know you and your concerns: Your counselor will take the time to get to know you, your family history, and your unique questions.

2. Assess potential risk factors: The genetic counselor will look closely at your family history by drawing a pedigree and asking specific questions. These tools help the genetic counselor assess whether your history increases your risk for certain diseases. Some factors the genetic counselor is looking for include:

• Diseases that occur at an earlier age than expected

• Disease in more than one close relative

• Disease that does not usually affect a certain gender (for example, breast cancer in a male)

• Certain combinations of diseases within a family (for example, breast and ovarian cancer)

3. Offer appropriate and relevant genetic testing: Genetic counselors discuss the option of genetic testing relevant to your family history. Additionally, even if you do not have a family history that signifies an increased risk for a particular condition, genetic counselors can discuss the option of genetic screening.

4. Discuss risks to other family members: Genetic counselors can help identify other family members that may also be at risk, so that those family members can be offered the option of genetic consultation and genetic testing.

5. Help you and your doctor implement your family history and results into your medical care: The genetic counselor can assess your family health history, interpret genetic test results, and summarize relevant guidelines for screening and management.

How can Genome Medical play a part in your family health?

Genome Medical is a nationwide practice of genetic experts that can assess your concerns regarding your family history and discuss the potential benefits of genetic testing. A Genome Medical genetic counselor will interpret your family history and genetic test results into a clinical action plan for your doctor. Lastly, Genome Medical can support the entire family (whether they come to the Thanksgiving table or not), and help them understand the impact of their family health information as well.

Asking your family members about their health may not be easy. But it would be great if we could be as comfortable asking “What kind of condition did Grandpa have again?” as “Pass the potatoes, please.” Here’s to a new Thanksgiving tradition!

Interested in speaking with a Genetic Counselor? Click on the button below.

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References:

CDC Family Health History

Genetics Home Reference: Why it is important to know my family health history?

By Catherine Fine, MS, Certified Genetic Counselor and Clinical Cancer Service Lead 

Like the song suggests, many people consider “raindrops on roses and whiskers on kittens” a few of their favorite things. For me, I have some year-round favorites (my family, friends and 2-year-old golden retriever, Butterbear), but many of my favorite things are almost always associated with October: the autumn season, changing leaves, pumpkin-everything, cool crisp weather, a favorite sweatshirt, football games and of course, men wearing pink.

I have seen some criticism on the overuse of the color pink for breast cancer awareness. But as a cancer genetic counselor who primarily sees patients for personal and family histories of breast cancer, when I see the pink socks, pink ties, pink shoelaces and pink football jerseys take center stage in support of breast cancer awareness, research and support, it truly gives me the same warm fuzzy feeling that I get when I break out my favorite sweatshirt for the first time that season.

However, seeing more men wearing pink every October also leads me to ask, “Is that really enough? What else can men do to help support the cause that women (and men) fight every day?” While I personally don’t have the solution on how to end breast cancer, there is one way I believe men can continue to help the cause: pursue genetic testing for themselves.

About 10% of all breast cancer is due to a hereditary predisposition; specifically, a gene mutation that puts an individual at a much higher risk for breast cancer and possibly other cancers. The most common mutations associated with this hereditary predisposition are found in the BRCA1 or BRCA2 genes. However, even though men and women can carry one of these mutations at the same rate, women are three times more likely to get genetic testing compared to men. This disparity grows when looking specifically at the BRCA1 and BRCA2 genes: women are 10 times more likely to get this kind of genetic testing compared to men.

This gap is extremely unfortunate given the valuable information that genetic testing for hereditary predisposition to cancer can provide — not only for men themselves (men with BRCA mutations are primarily at a higher risk for prostate cancer and breast cancer) but also for their female relatives. These family members may be at risk for the same familial cancer gene mutation, and thus at a much higher risk for breast cancer and ovarian cancer.  

Finding out if this hereditary predisposition to certain types of cancer exists is step 1, but individuals shouldn’t stop there. Both men and women can actively participate in screening options, with the goal of early detection by starting at earlier ages and increased frequency than what is typically recommended for the general population. For women, there are even surgical options available to help prevent cancers from happening in the first place. These screening and surgical interventions are typically covered by insurance.

Let me also dispel the misconception that genetic testing for hereditary cancer predisposition is expensive. Most health insurance covers genetic testing when there is a personal and/or family history of breast cancer. For those who don’t have insurance or might not have a personal or family history of cancer, there are patient assistance programs or self-pay programs that make testing affordable. As a genetic counselor, I inform patients that cost should never be the main concern for individuals who wish to be tested. We will work to find a program or out-of-pocket option that will fit with each individual situation. We are no longer in the days where hereditary cancer genetic testing costs is thousands of dollars; rather, we are now at a point where it is typically hundreds or less.

So, as I retreat to thinking about “my favorite things,” most of which happen in October, I am going to make a mental note to add “breast cancer genetic testing in men.” That’s right men — like an audible in a football game, I am calling you out. It’s time to get off the bench and get in the “genetic testing game.” My hope is that come every October, when you are filling out your weekly fantasy football roster and pulling out the pink socks, ties and jerseys, you also sign up to talk to a genetic counselor about breast cancer genetic testing. This will not only help yourself, but it will also provide an extra boost in the fight against breast cancer. It’s the fourth quarter and we all need you in this “game” if we are ever going to win the fight against all breast cancer.

If you’d like to talk to a genetic counselor about your risk for cancer, schedule now by clicking here!

Precision medicine is a common term used in health care. But what does it mean? Learn more about what precision medicine is, what it is not and how this approach to medical care can be valuable to individuals, families and health systems when paired with clinical experts in genomic medicine.

What Is Precision Medicine?

If you follow advances in medicine and health care, the term “precision medicine” likely comes up. But what does this term mean? Precision medicine helps clinicians use information about a person’s unique genetics, environment and lifestyle to offer that person more accurate and effective disease treatment and prevention (adapted from U.S. Precision Medicine Initiative). 

Using that same information, precision medicine also aims to avoid medical care that may be ineffective or harmful to that person. The method to precision medicine is specific to an individual, as compared to the “one-size-fits-all” often used elsewhere in medicine.

The term “precision medicine” and the U.S. Precision Medicine Initiative may be relatively new, but the idea of providing accurate medical care to an individual patient is not. 

What is new is that, today, the amount and type of information clinicians have to offer precise care to an individual patient is far more than before. Medical scientists and researchers can advance genetics and genomics to understand disease, create more effective treatments and develop better prevention strategies. Experts in genomic medicine, like those at Genome Medical, can use these advances to appropriately deliver precision medicine to patients and families. 

What is the Difference Between Precision Medicine and Personalized Medicine?

The terms “precision medicine” and “personalized medicine” can mean the same thing and are often used interchangeably. However, “precision medicine” is the preferred term. A 2011 report from The National Research Council explained that “personalized medicine” left the impression that disease treatments and prevention strategies are created personally and individually for a patient, but that is not what happens in medical care. Instead, knowing about factors from a person’s genetics, environment and lifestyle help to develop a precise approach to medical care for that person. All of that is better captured in the term “precision medicine.”

What Are Benefits of Precision Medicine?

Precision medicine offers benefits to individuals, families and health systems. An example of personalized medicine is using genetic testing (such as genomic sequencing) to help determine an individual’s disease risk for a health condition, such as heart disease. 

• How does the individual benefit from precision medicine? 

• If genetic testing shows that someone has a high genetic risk for heart disease, their clinician can make medical recommendations to address those risks, with the goal of preventing heart disease. Precision medicine offers recommendations based on different factors: the person’s personal and family health history, genetic test results, lifestyle and environment. 

• How does the family benefit from precision medicine? 

• Some heart disease runs in families. Genetic testing can identify at-risk family members. Precision medicine could offer similar recommendations to these family members to address their risks for heart disease. 

• How does the health system benefit from precision medicine? 

• Populations of individuals, such as those within a health system, can improve their health by uncovering and addressing genetic risk factors for disease with a precision medicine method. Overall, this can reduce costs and resources, especially when knowledge gained feeds back into the system. (Ginsburg GG & Phillips K, Health Affairs, 2018).  

What Are Limitations of Precision Medicine?

Precision medicine uses information about genetics and genomics to provide a precise path to medical care for an individual. But even though the human genome is sequenced, an understanding of how all our genes work is still in progress. This is to be expected in a field like medical genetics, which is rapidly evolving. This also means there are natural limitations to how precision medicine can be used. Precision medicine is suitable and available for many, but not all, methods to disease treatment and prevention. Specialists in genomic medicine, such as those at Genome Medical, know these limitations and can appropriately deliver precision medicine to patients, families and health systems.

Precision Medicine and Genomics

Using advanced genetic testing technologies like DNA sequencing is easier and less expensive, making it more accessible than before. The amount of genomic data from individuals that is available to researchers and scientists is rapidly growing. By studying genomic data from different populations, these researchers and scientists in genetics and genomics can better understand how genetic variations contribute to disease. This understanding can lead to disease treatments and prevention strategies that are needed in a precision medicine approach. As time goes on, genetics and genomic medicine will play a growing role in healthcare.

Pharmacogenomics

Pharmacogenomics, sometimes called pharmacogenetics or drug response, falls under genomic medicine and precision medicine. Pharmacogenomics uses a person’s genetics to help select and/or dose a medication to treat a disease. Pharmacogenomics also aims to avoid medications that may cause harmful side effects for that person. An example of pharmacogenomics is using a person’s genetics to dose a blood thinner medication needed to treat a blood clot. Pharmacogenetic testing is available to learn a person’s sensitivity to specific blood thinners, which could help a clinician pick the right medication and dose for that person. This helps allow for more effective treatment, while also reducing the risk of harm with an incorrect treatment.

Precision Medicine in Cancer

New information about the human genome is always being applied to cancer research and treatment. An understanding of how genes contribute to cancer can help with developing effective treatments. “Precision oncology” is a subset of oncology that uses information about cancer and genetics for precision medicine. As an example, genetic testing (often called comprehensive genomic profiling) is done on tumors from patients to determine a “genetic profile” of genetic variants found within the tumor. Certain genetic variants (and the absence of others) in a tumor track with certain diagnoses, targeted treatments, or stages of cancer in a patient. This can help clinicians better know how to care for and medically manage their patients with cancer.

Precision Medicine Genomics in Health Care

The Future of Genomics in Health Care

As more is understood about genetics and genomics, this knowledge will play an increasing role in precision medicine and health care. Research about genomic variants in populations with and without disease is already being applied in clinical trials, drug development and disease prevention pathways. Precision medicine and experts in genomic medicine represent the future of patient care, as we move from intervention-based healthcare to preventive and proactive healthcare. 

Precision Medicine Genomics Solutions for Health Systems

Genome Medical’s expert clinicians and genomic medicine services offer multiple benefits to individuals, health systems and hospitals nationwide. They can offer comprehensive genetics evaluations, which may include a discussion of genetic testing to identify disease risks. Using a precision medicine approach, medical recommendations and a clinical action plan are provided to help address and reduce genetic health risks. The medical professionals at Genome Medical are well positioned to effectively deliver precision medicine to the individuals that need it.

Have more questions or are interested in speaking with a genetic counselor? 

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Or call (877) 688-0992

Population Health Programs

You may have been hearing lots of buzz lately about the term “population health.” While the concept has been around for some time, it’s increasingly in the spotlight. One reason is because, as genomic information becomes more accessible and available, innovative health systems and hospitals are developing population health programs for the communities they serve. 

What is Population Health?

The definition can vary somewhat, but the basic idea of population health is for the health care team, researchers and the community to gain a deeper understanding of the current and long-term health risks faced by a particular population. The goal? To reduce those risks, detect disease early and provide the most appropriate treatments at the optimal time. The overarching aim is improved health. 

The Centers for Disease Control and Prevention (CDC) notes that population health “brings significant health concerns into focus and addresses ways that resources can be allocated to overcome the problems that drive poor health conditions in the population.” [1].

There are multiple ways that a health system, hospital or other entity might seek to bring health concerns into focus. For example, some might examine how social determinants of health—like pollution levels or access to healthy food—affect the populations they serve. Others are leading a deep dive into our genomes — the sum of our genetic make-up — to  find out what proportion of their communities are at high genetic risk for conditions like diabetes or hereditary cancer and to make discoveries about how our genes influence our health. 

Genomics in Population Health

By bringing genomics into the mix, hospitals and health care systems can add an important dimension to their understanding of the health issues facing their populations. Providing genetic screening on a routine basis—and combining the results with other health data such as the individual’s electronic health record (EHR)—can help health systems discover which of their patients are at high risk for particular diseases or are carriers for heritable conditions. A few health systems have started offering genetic screening of their patients and have identified thousands of people who are at increased risk of developing cancer, heart disease, heart attack and other serious conditions. Most did not know that they carried these genetic risks. [2]  

With genomic and clinical information in hand, individuals and their doctors can collaborate on ways to help the individual reduce risk. In some cases, that will mean making lifestyle changes; in others, it will mean monitoring for symptoms that can be treated most effectively when detected early. People with personal or family medical histories of particular conditions need care that’s not one-size-fits-all, but tailored to them. As importantly, when a genetic diagnosis is made in one individual, an entire family can be tested to see if they have the same risks. A single test can provide information that can benefit dozens of family members.

Why is Population Health Important?

Population health, as the name implies, affects everyone. Programs that aim to better understand and improve the health of a particular group can reduce suffering and improve health outcomes within that group. 

At Genome Medical, we think of population health as a way to optimize how health services, informed by genomics, are delivered to all people who need them, throughout their lives. 

Hereditary cancer is one good—and pressing—example. Today, about half of the people who have genetic variants, or changes in their genes, that increase their risk of hereditary cancers don’t meet the current guidelines governing who should receive genetic testing and counseling. And among the other half who do fit the current guidelines [3], only about 15 percent to 20 percent are actually receiving the recommended genetic services. [4] 

With a population health program that includes genetic screening, health systems and hospitals have a much better chance of identifying those at greatest risk. And that helps them work with individuals to take timely, appropriate action to prevent or reduce the impact of these cancers. 

Population Health vs. Public Health: What’s the Difference?

While there is some overlap between population health and public health, public health is defined more broadly. According to the CDC, it can be defined as “what we as a society do collectively to assure the conditions in which people can be healthy.” In other words, public health “works to protect and improve the health of communities through policy recommendations, health education and outreach, and research for disease detection and injury prevention.” [5]

Population health, on the other hand, is focused on understanding and improving the health of particular communities, such as those served by a specific health care system. 

Improving Population Health Through Studies

Population health programs can have a far-reaching impact when they include a research component. For example, the Healthy Nevada Project is the largest community-based population health study in the world. In it, some 50,000 Nevada residents will have the opportunity to discover their genetic risks for heart disease and certain cancers, as well as be provided with ancestry information and dietary insights. [6]   The Healthy Nevada Project selected Genome Medical to provide genetic counseling for participants who receive medically meaningful results, which allows participants and their families to learn how to incorporate their genetic results into their medical care. 

The project plans to use the data gathered from these individuals to make long-term projections about disease and illness risk for the state’s entire population. The hope is that the effort will allow future needs to be addressed not in a one-size-fits-all fashion, but in a targeted way that meets the specific needs of the population. It’s a leading example of how genetics can improve population health studies. 

The findings of population health studies like these can form the foundation of future planning, allowing health systems, hospitals, agencies and governmental organizations to preview future needs in order to provide the right resources, at the right time, to the people they serve. 

Getting Started with a Population Health Program

If you work within a hospital or health system and would like to explore starting a population health program, or want to expand an existing initiative, please contact us. Our population health team has extensive experience in this area, joining Genome Medical from the leadership team of Geisinger Health System,one of the pioneering population health programs built by a hospital or health system. Geisinger’s MyCode Initiative has sequenced the exomes (the part of the genome that contains our genes) for more than 144,000 Geisinger patients and has returned medically actionable results to almost 1,500 participants. We provide genetics services for health systems and hospitals throughout the country.

Our services include 

• strategic advice and guidance

• program development and implementation support for large-scale initiatives

• engagement of patients and providers

• genetic testing coordination

• return of clinically meaningful results to both patients and providers

Connect with us to learn more about bringing the benefits of population health to the people you serve.

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Lisa Alderson, CEO and Co-Founder of Genome Medical
Genome-informed medicine offers tremendous promise for improved health and wellness. Journey into the future of medicine and learn how genetics and genomics are impacting patient care today for earlier diagnosis, more personalized treatment and population health management.

Courtesy of @WebSummit

Since the completion of the Human Genome Project in April of 2003, researchers have been making major headway in better understanding the role of genetics and genomics in medicine.

Applications of genomic information have led to: 

• An increased knowledge of diseases like cancer and heart disease
• An increased knowledge of rare diseases like cystic fibrosis and Huntington’s disease
• Advancements in genetic testing technologies like DNA sequencing
• Advancements in new drug therapies that are targeted or tailored to an individual’s genetic information

Genetics vs. Genomics

However, before I get too far ahead of myself, let’s take a step back and define a couple of terms that many people find confusing and are often used interchangeably in health care; the terms are genetics and genomics.

Genetics is the study of how traits, conditions, and/or diseases are passed between generations in a family as well as the variation seen in the traits, conditions, and/or diseases due to single genes.

Genomics, however, is the study of all of a person’s genes (‘the genome’) and how different genes interact with each other and with an individual’s environment.

Application of Genomics in Health

Genomics and Cancer

I personally understand things better with an example, so let’s use cancer to further explain the difference between genetics and genomics. All cancer arises from harmful variations in our genes (called mutations) that we acquire spontaneously throughout our life from various things we are exposed to (alcohol, chemicals, smoke, etc.). It typically takes mutations in multiple genes to occur before a normal cell turns into a cancer cell. For this reason, all cancer is genetic in nature. Additionally, ~10% of people who develop cancer are born with a mutation in a gene that predisposes them to develop certain cancers; these are called hereditary cancer syndromes and common hereditary cancer syndromes include hereditary breast and ovarian cancer syndrome (BRCA1/2), Lynch syndrome and MUTYH-associated polyposis.

Due to advances in genomic medicine, we now have the ability to take cells from a cancer or tumor and test the genome of the cancer cells to see which genes are mutated. Based on this type of genomic testing, oncologists are able to recommend targeted therapies by prescribing chemotherapies that will take advantage of the specific mutations in the cancer. Individuals with metastatic colorectal cancer, for example, who are identified to have a mutation in the KRAS gene may respond to the drugs cetuximab (Erbitux) or panitumumab (Vectibix). However, if the colorectal cancer does not have a KRAS mutation, these drugs are unlikely to work in treating the cancer and are not likely to be used. Examples like this exist for many cancer types; Herceptin is used in breast cancers that have multiple copies of the HER2/neu fusion gene, tyrosine kinase inhibitors (Iressa or Tarceva) in lung cancers that have EGFR mutations and PARP inhibitors (Lynparza, Rubraca, Zejula) in ovarian cancers that have a BRCA1 or BRCA2 mutation.

Genomics and Heart Disease

Genome research has also had a significant impact on inherited heart diseases like long QT syndrome and Brugada syndrome that affect the electrical system of the heart (inherited arrhythmias), hypertrophic and dilated cardiomyopathy that cause enlarging of the heart and familial hypercholesterolemia that causes very high cholesterol. In 2003 we knew of 10-15 genes that could cause these hereditary conditions. Now we know of over 150 different genes that can cause these conditions. Additionally, we have learned that some genes can cause more than one type of inherited heart condition depending on the type of mutation or where the mutation occurs in a gene. Knowing this type of information allows physicians to develop tailored screening and treatment regimens to minimize the risk of experiencing a cardiac event.

Genomics and Preventive Healthcare

Genomic sequencing technologies have drastically improved over the years which has driven down the cost of genetic testing, making it more accessible to individuals. Because of this, many laboratories have started to offer genetic testing for ‘healthy’ individuals that want to know whether or not they have may have a risk of developing a genetic disease that the family history is not providing evidence of. As discussed above, this type of testing can be performed to assess whether someone has a high hereditary risk of developing cancer or heart disease. Individuals interested in starting a family can undergo carrier screening for a couple of hundred genetic diseases to determine whether they have a chance of having a child with a genetic condition. The idea behind proactive or healthy testing is to give people an advantage of knowing what health risks may impact themselves or their family members down the road so that increased screening can be initiated or started at a younger age to, ideally, detect the disorder at the earliest possible stage if it were to develop, or in some cases, prevent it altogether. Prevention can be done with medications, lifestyle modifications or surgery. It is important to appreciate that not everyone who has a risk of developing a genetic disease will go on to develop it. Your genetics are not your destiny!

Application of Genomics in Medicine

A newer application of genetics and genomics relates to something called pharmacogenomics. Pharmacogenomics is the study of how your genetic make-up determines how your body breaks down or metabolizes certain medications. Knowing this information can allow your doctors to ensure you are taking the right dose of a particular medication or, in some cases, recommend a different medication altogether if your genetic make-up indicates that you are likely to experience significant side effects or not respond to the medication. Pharmacogenomic testing can provide information about many medications, but not all medications have genetic information that can be used for prescribing purposes. The FDA recommends genetic testing before prescribing certain medications. For instance, codeine (narcotic) is a commonly used pain reliever, that is converted to morphine (a stronger narcotic) in the body. About 1-2% of the population metabolizes codeine too fast (called ultrarapid metabolizers). When this happens, too much morphine is produced which can lead to significant toxicity in the body. On the other hand, about 5-10% of the population metabolizes too slowly (called poor metabolizers); when this happens people do not get the pain relief that codeine is supposed to provide. Therefore, by doing a pharmacogenomic test, if someone is determined to be an ultrarapid or poor metabolizer of codeine, their physician can prescribe a different pain reliever to minimize the risk of side effects and maximize pain relief at the same time.

Future Role of Genetics and Genomics in Medicine

Genomic data has allowed medicine to advance by leaps and bounds, but there is still a lot we do not understand about the genome, especially as it relates to common diseases like diabetes, coronary artery disease, obesity, and autoimmune conditions. One emerging area as it relates to common disease and genomics are polygenic risk scores (PRS). PRS are genetic tests that look at hundreds to thousands of common and rare genetic variations in the genome linked to a specific disease. Through mathematical modeling based on the number of genetic variations identified as well as factoring in other risk factors, a PRS can determine whether you have a low, moderate or high risk of developing a disease. Given the level of risk, you and your physician may then be able to use this information to make diet and lifestyle modifications to minimize risk. However, as this test is so new, additional studies are needed to determine how accurate these tests are and whether having the information makes a difference in disease outcomes.

Further, it is believed that we will soon get to a point where at the time of birth, every baby has their whole genome sequenced so that disease risks can be assessed early in life. Can you imagine the possibilities?