Insights

Genetics, the New Frontier

Have you ever wondered what the underlying building blocks of your DNA tell you about your unique health road map? Knowing information about our DNA tells part of our story of what might affect our health. For some people, knowing about their DNA might provide invaluable insights that could encourage a change in behaviors or influence decisions about prevention or treatment.

The news is filled with information about DNA mapping. Anyone can provide a saliva or blood sample and companies such as Invitae, Myriad, Pathway Genomics, GeneDx or 23 and Me can return a genetic profile about risk for specific diseases. For instance, Angelina Jolie made a monumental decision to have a preventive mastectomy on the basis of information that she had about her DNA. As a carrier of the BRCA1 mutation, she decided to have a bilateral mastectomy. Because she has the BRCA1 mutation, that drastic surgery reduced her risk of breast cancer by up to 95 percent. Bilateral mastectomy can reduce the risk of dying of breast cancer up to 90 percent in women who have a strong family history of breast cancer as well, according to the National Cancer Institute.

I was an oncology nurse and spent a lot of time thinking about risk, especially related to lifestyle and environmental factors. I lived a healthy lifestyle and never imagined that I was a woman “at risk.”

In the case of breast cancer, the challenge is to determine who falls into the category of having a family history. For me, my father’s mother had breast cancer when she was in her 40s and my mother’s sister had breast cancer in her late 50s, but there were no other cases of breast cancer. I shared this history with my internists and OB/GYNs over the years but it never raised a red flag. I was an oncology nurse and spent a lot of time thinking about risk, especially related to lifestyle and environmental factors. I lived a healthy lifestyle and never imagined that I was a woman “at risk.”

My Story

When I was diagnosed with breast cancer at the age of 40 while nursing my fourth child, I was shocked. I assumed I had all the protective factors that would prevent me from getting breast cancer, but yet here I was. After my diagnosis, I was tested to see if I was a carrier of the BRCA gene mutation. In 2006, that was the mutation most associated with breast cancer. The test showed I did not carry the BRCA mutation, but I sensed then that I must have some genetic mutation. It may have been my way of trying to explain this horrible turn of events, but I wanted a reason.

If I had known of my “risky” history, then I would have started surveillance at an earlier age and might have had a different outcome.

I remember being told at the time of my diagnosis that my breast cancer had probably been growing in me for at least five years. But unfortunately, I was not due to have my first mammogram until I was 40. If I had known of my “risky” history, then I would have started surveillance at an earlier age and might have had a different outcome.

Knowledge is Power

Knowledge is power. Although genetic testing aimed at helping to prevent breast cancer is still far from a perfect process, it has its place. About 5 percent to 10 percent of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child. The average woman in the United States has about a 1 in 8, or about 12 percent, risk of developing breast cancer in her lifetime. With a genetic mutation, that risk can be anywhere from 40 percent to 80 percent. More women are now being offered gene-testing panels that look not just for mutations to BRCA1 and 2, but also to ATM, CHEK2, and PALB2 — all of which are genes in which mutations may increase the risk of breast cancer. If a woman has one of those genes, screening for breast cancer starts at the age of 30, instead of 35 or 40.

The average woman in the United States has about a 1 in 8, or about 12 percent, risk of developing breast cancer in her lifetime. With a genetic mutation, that risk can be anywhere from 40 percent to 80 percent.

As a result of my belief that I could likely be a mutation carrier, I had genetic testing, which showed I carry a mutation in the CHEK2 gene. This likely explains my early breast cancer diagnosis. Nevertheless, some skeptics say that widespread genetic testing will only result in more testing. In other words, more people getting genetic testing may result in more testing for disease and more discovery of “disease” even though the condition in question may never fully express itself. But, genetic testing can also spare people from too much treatment. For instance, my sister used the information from her genetic testing to choose a less aggressive form of treatment for a precancerous lesion, knowing she was at less risk based on her genetic profile. I say, we won’t know the value of genetic testing until we have more data.

… my sister used the information from her genetic testing to choose a less aggressive form of treatment for a precancerous lesion, knowing she was at less risk based on her genetic profile.

I feel strongly that there is a real opportunity to improve health based on information gleaned from genetic testing that was not previously available. Knowing my DNA results has been a gift to my family. Family members who also test positive for the mutation will be able to have closer monitoring as a result of this knowledge. I will also be more closely followed for other potential cancers associated with the CHEK2 mutation.

 

If you can answer yes to any one of the questions below, it would be appropriate to consider genetic testing.

Did any of your first-degree (parents, brothers, sisters, children) relatives have breast or ovarian cancer?
Did any of your relatives have breast cancer in both breasts?
Did any man in your family have breast cancer?
Did any woman in your family have breast and ovarian cancer?
Did any woman in your family have breast cancer before age 50?
Do you have 2 or more relatives with breast and/or ovarian cancer?
Do you have 2 or more relatives with breast and/or colon cancer?

First-degree = parents, brothers, sisters, children

Second-degree = aunts, uncles, nieces, nephews, grandparents, grandchildren

 

Source:

Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, et al. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009;9:283.

 

 

Insights

See to Your Life Values

There are health benefits from spending valuable time with family

One definition of “values” is: “One’s judgment of what is important in life.” We would also say that values are a set of ideals we develop over our lifetime. For instance, values are religious and spiritual beliefs, ideas about the role of family and our attitudes toward money. Unlike goals we set for ourselves (which can change frequently), values are more fixed in our identities, but can evolve over time. We believe that values become very important when making decisions about care and especially about end-of-life. If you answer the following questions, you can begin to formulate your Values Statement. This is something you share with your family and will help them if you are ever incapacitated or not able to make decisions for yourself.

Go to the Life Values Decision Guide >

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See to Your Health Goals

You may have heard of Advance Care Planning, a process by which patients consider their wishes at the end of life. Before then, it’s crucial to think about the state of health you aspire to maintain until the very end.  Answer these questions to clarify your health objectives now, and in the future. Doing so will help you ask the right questions and get better, more personalized care.

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Life Values Decision Guide

There are health benefits from spending valuable time with family

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Money Matters: Talking to Seniors About Their Finances

It can be difficult to have conversations about money

No one wants to talk about finances, especially with their parents. Our attitudes about financial matters are complicated and deeply personal. As a result, the topic can be very awkward and difficult to discuss, especially among our nearest and dearest. Nevertheless, broaching the topic of money management is essential to ensure that your loved ones’ assets are safe and that they have enough money to live on.

I still remember the story told over a family Christmas about how horrified my parents were to learn that my grandparents (one of their parents) had suddenly decided to give to a lot of money to Billy Graham. The fact that my grandparents had never given to an evangelist before was worrisome. In addition, they were surprisingly proud to show us the “expensive” trinket they had received for their donation. My parents were perplexed about how to address this change in behavior.

44% of Americans believe personal finances are the most challenging topic to discuss with other people.

Wells Fargo (WFC) released a study in 2014 revealing that 44% of Americans believe personal finances are the most challenging topic to discuss with other people. It ranked above death (38%), politics (35%), and even religion (32%).

The conversation about finances and financial planning in later life can make people feel overwhelmed and fearful that they are losing control. It is important to be sensitive to this and listen to what is being said, as well as the experiences and needs that are expressed. Here is a suggested phrase to use to initiate the conversation:

I’m worried that if something happens to you, I won’t know what to do.

This statement communicates concern but also aligns your goals with those of your loved ones. Communicating that you are “on their team” is an important step in getting buy-in and cooperation.

Financial decline is subtler than physical decline.

It is important to have a plan with parents about their finances as they age. It is also essential to be aware of any potential financial decline. Financial decline is subtler than physical decline and can be impacted by factors such as depression or medication side effects. It could also be an early sign of dementia, signaling the need for more testing. Knowing exactly what is causing the change in behavior or difficulties with handling finances may lead to urgent decisions, such as protecting assets or highlighting the need for near-future care planning.

The following are warning signs that someone you love may be struggling with financial matters and at risk for financial scams, overspending or missing payments and lowering their credit score:

  1. Watch for mistakes in everyday arithmetic, such as struggling with calculating a tip or counting change.
  2. Do you hear them talking about investments that could be constituted as fraud or a scam?
  3. Are there bills piling up and payments being missed?
  4. Do tasks such as preparing bills to mail, tracking statements, and organizing paperwork seem like onerous tasks?
  5. Is there a change in their ability to understand health care expenses or bank statements?

Watching for changes in patterns of behavior related to money is critical when protecting your parents’ best interests.

Once you have establish trust, you may want to continue the conversation with the support of a professional, such as a Certified Financial Planner or an accountant (CPA), or even a trusted banker. In this process, make sure not to criticize, condescend, or blame them. Begin by identifying all existing accounts, including pensions (the Pension Benefit Guaranty Corporation’s website can help). Obtain a copy (free) of your parents’ credit reports. This can help you track down their existing credit cards and loans and will help uncover or prevent identity theft. Encourage your parents to consult you before investing in any new annuities, insurance products, or brokerage accounts. Finally, don’t forget to keep meticulous records of all activities and communicate with other family members to prevent legal action from an angry relative.

There are other professionals who specialize in assisting with money matters, such as elder care attorneys, private fiduciaries, medical billing advocates, and estate planners. (See the C2it Health Translator and Professional Resources for more information.) They help to provide unbiased, independent advice. Even though it’s uncomfortable, recognizing that someone you love isn’t able to handle their finances any longer or is in financial trouble already is an opportunity to act early to protect their independence and safety.

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References:

Goetting and Schmall, “Talking with Aging Parents about Finances”, Montana State University Extension

J. Opdyke, “How to Talk to Your Parents about Money”, Aug 2011, WSJ

T. Beck, “Five Signs Your Parents Need Help with Financial Decisions”, Oct 2015,  WSJ

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Need More Help?

We understand that experiencing health problems is stressful and so is supporting someone else through illness and are working hard to provide important insights and resources to you on this site. However, we know you may still have questions and need more guidance. While we do not provide direct consultation, we would like to help you understand what you need to do to find answers and make the best decisions. Answer the questions below to help us help you. You may not hear from us for a few days, so don’t contact us for an emergency, but we will do the best we can to point you in the right direction. We are committed to helping the C2it Community, and your questions may also help us continue to make C2 It Health a comprehensive resource for solving challenging health care dilemmas. -Kim and Jennifer

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Post-Hospital Complication Prevention Guide

Help with hospital discharge makes recovery smoother.

Being discharged from the hospital can be dangerous. The first three weeks after discharge is a vulnerable time for patients. Of all the surgical complications that happen after surgery, 40 % happen at home. It is important to know the warning signs and be alert for complications.

    The extent of pain experienced is related to how invasive the procedure was. If pain gets worse, instead of better, then that is a sign of a possible complication.
    In older adults, it is possible to have confusion or delirium for weeks and even months after surgery.
    When less air is moving then mucous gets trapped in the lungs and can cause pneumonia. Warning signs: Shortness of breath and fast beating heart.
    General anesthesia causes fatigue and the longer the surgery the longer it takes to recover energy.