Blog Archives

New Year’s Resolutions: Think Ahead

As we begin 2013, we are all thinking ahead to how we could make this year a good one.  Many of us will come up with goals or New Year’s resolutions. I find that 2 of the most common things people promise themselves  is to spend more time with their families and to keep healthy. I cannot imagine how much gym memberships go up in the month of January!

I think we can approach both the family and health resolutions  from a genetics perspective. First, as you are spending all this time with your families, I urge you to open up and talk about health issues with them. I cannot stress how often my patients tell me about major medical problems in relatives that they don’t realize are genetic and may actually affect them as well. So if you have something, please don’t hide it from your families. And take the time to ask other family members if they have anything going on. Like it or not, genetics brings families together.

And keeping healthy—be proactive about your health. Yes, keeping healthy means maintaining a healthy diet, exercising, cutting down on alcohol and smoking, reducing stress etc. But it also means taking preventative measures to reduce the chance of developing a health problem. Health screening measures include (but are not limited to) blood pressure and cholesterol monitoring, mammograms for women over age 40, colonoscopies for men and women over age 50, vaccinations for children and other screening tests like bone density and prostate exams.

And of course, if you are thinking about having children in the near future, make sure to get tested for common genetic diseases that could affect your offspring, ideally before becoming pregnant. If you and your partner are both carriers of a genetic disease, there are preventative measures you can take to avoid having an affected child.

So make 2013 count—think ahead and do what you can now. Don’t wait until it’s too late.

How To Set Up an Appointment for Ashkenazi Jewish Carrier Screening

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We get a lot of phone calls and emails every day asking about our Ashkenazi Jewish carrier screening program, how it works, and how to set up an appointment. Hopefully this bit of information will be helpful.

  • We (the Program for Jewish Genetic Health) provide genetic counseling and carrier screening in the NY-area through our clinical offices at Montefiore Medical Center.
  • You must have genetic counseling in order to have your carrier screening through our program.
  • Since you are coming in for a genetic counseling visit, we do ask for your physician’s phone number so we can send a copy of your results to your physician.
  • Since it is a genetic counseling visit, Montefiore bills your insurance company for the genetic counseling visit. We have you call your insurance company before setting up an appointment to see if the genetic counseling will be covered. For instructions on how to do this, click here. If you don’t check with your insurance company in advance and you get a bill, we CANNOT reduce the price of the office visit.
  • If you do not have any health insurance, we offer you a reduced rate of $75 for the office visit. We ask that you contribute $180 towards the cost of your genetic testing and we subsidize the remainder.
  • We do not run the genetic testing ourselves. We send the testing out to outside labs. The lab which we use for the majority of your testing bills your insurance company. Even if your insurance company pays NOTHING, the lab will not send you a bill for more than $99. For this reason, we do not ask you to look into insurance coverage for the genetic testing, and we do not deal with insurance companies regarding this.
  • It takes ~2-3 weeks to get results from the testing. Once results are in, we call you with the results and send a copy of the results to your doctor and to yourself for your records.
  • Once you are ready to set up an appointment, click here and fill out our registration form. Someone will contact you within 2-3 days to set up an appointment. Below are our appointment times:

Mondays 8:30am-9:30am

Tuesdays 8:30am-11:00am and 1:00pm-2:00pm

Fridays 8:30am-10:00am

  • For more information, click here to visit our Program’s informational genetic testing website.

If you do not live in the NY-area, try contacting one of these wonderful organizations who provide subsidized carrier screening:

1)      The Victor Center  http://www.victorcenters.org/screening.cfm

2)      The Center for Jewish Genetics (formerly the Chicago Center for Jewish Genetics) http://www.jewishgenetics.org/?q=content/education-and-screening-programs

3)      The Jewish Genetic Diseases Center of Greater Phoenix  http://www.jewishgeneticsphx.org/

If one of these centers is not local, please visit www.nsgc.org to find a genetic counselor near you.

What to Expect: The Cancer Genetics Appointment

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We’ve already spoken about two of the most common genetics visits (prenatal and pediatric). The third common genetics visit is for cancer genetics. You might be sent to speak to a genetic counselor because you’ve had either a personal or family history of cancer. Usually we are concerned when many individuals in one family are diagnosed with cancer, specifically at young ages (<50 years old). The concern is that the cancer in your family may have been caused by something hereditary, which could then cause yourself or other family members to have a higher risk for cancer than others in the general population.

At a cancer genetics appointment, you won’t necessarily have genetic testing. The majority of the session is spent reviewing your family history . The genetic counselor will ask you a number of questions about all of the individuals in your family who have had cancer (and those who haven’t!). How are they related to you? What kind of cancer did they have? How old were they when they were diagnosed? Has anyone else in the family had genetic testing before? (Speak with your family before going in for your cancer genetics appointment to find out the answers to these questions!)

Once you’d discussed the family history, the genetic counselor/geneticist will let you know how likely they think it is that the cancer in your family is being caused by something inherited and they will educate you about the specific cancer syndromes they are considering and which gene or genes they recommend testing.

“So what if the cancer in my family is inherited? I wouldn’t want to know if I had a higher chance to develop cancer than other people! I’ll probably just get cancer like everyone else did.”

That is definitely one perspective, but the truth is that the area of cancer genetics is one the most empowering area of genetics now-a-days. If we are able to identify individuals who are at an increased risk for cancer, we can recommend increased screening protocols so that cancer can be detected at an earlier and treatable stage. Additionally, some individuals with a hereditary increased risk for cancer may decide to use chemoprevention (medications which may reduce cancer risk for some women) or undergo preventive surgeries in order to reduce their risk for cancer.

The final decision of whether or not to undergo genetic testing is ultimately up to you, but the genetic counseling visit is vital in order to determine what gene or genes should be tested, and to provide you with the information you need to make that decision.

My Thanksgiving Appeal: The Importance of Family Health History

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This coming Thanksgiving (2012) will be the 9th annual National Family History Day, a day on which families typically gather together and are encouraged to openly discuss their family health history, so this important information can guide family members and their physicians in making appropriate screening and management decisions.

Why is family health history important, you ask?

Whenever you meet with a genetics professional, they will take a family history, or pedigree.

For a genetic counselor or a medical geneticist, the family history is a crucial evaluation. In some cases it is your baseline health screening. In other cases, it helps to identify whether or not there is a concerning pattern in the family of individuals being affected with similar or related conditions. Family history risk assessment is a critical tool in my arsenal, and is much quicker and extremely less expensive than genetic testing.  It often indicates to us which gene or genes should be tested, who in the family should be tested, and when genetic testing is unavailable, our reliable family history still provides us with guidance regarding possible genetic and health risks in the family  and helps us determine if a condition in question is isolated or identify who else in the family is at risk.

The downside of using family history as a unique and vital screening tool is that most individuals are terrible historians. There are many reasons for this. Families rarely sit down together and talk about their medical problems. “Cousin Sarah is quite ill. She was diagnosed with something. Maybe it was cervical cancer. Maybe it was ovarian cancer. Maybe it was an infection, I’m not quite sure.” “My sister had a baby who passed away, but I’m not sure why. They never explained if the baby was sick or what happened exactly.” This is often for the benefit of the individual who is ill, so that he or she retains some privacy.

Many families are secretive about their medical issues. It is not uncommon to not know medical information about parts of the family that one is not in contact with anymore. “I have 4 brothers and sisters, but I only talk to my brother Jeff. I don’t know if my other siblings are healthy.”  “My mom has 3 sisters, but we don’t talk to Aunt Susie or Uncle Ben’s families. I’m not even sure how many kids they have.”  Sometimes the affected family member is far away, in another state or country perhaps, and it is difficult to find out what exactly happened. It is not uncommon to have limited information about their family health histories, even though this information is valuable and could have far reaching implications for individuals and their families.

Use the following steps to ensure that your family health history is accurate and up to date.

1) Start by creating a family tree. List all of your relatives starting with your children, your siblings, and your parents. Then list your grandparents, each of your parents siblings (your aunts and uncles), and their children (your first cousins). Add on new family members as they are born.

2) Record the medical history for each individual. Indicate the medical issues for each individual, including the specifics of the diagnoses as well as the age of diagnosis. For those family members who have passed away, indicate the age at which they passed away as well as the cause of their deaths.

3) Update your family history at a set time each year. It’s possible for a variety of reasons that you will not be notified when something has changed in your family’s health history. Set a time once a year when the family is gathered together to discuss and record the family health history.

The CDC’s Office of Public Health Genomics collaborated with the U.S. Surgeon General and other federal agencies to develop a Web-based tool called “My Family Health Portrait” https://familyhistory.hhs.gov/fhh-web/home.action.  This online resource is designed to help individuals record their family health history.

Your “family history day” doesn’t need to be Thanksgiving, but be sure to set a day each year to openly discuss your family health history and record it so that this vital information can be available to help direct you and your family’s healthcare and management.

 

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