By Sarah Goldberg 

As genetic tests allow us to know more about our makeup than ever before, sorting out just how much information we want about ourselves and our families can feel complicated – and perhaps nowhere is the question more pertinent than when having a baby.

What do we want to know about a child’s risk of disease? Most of us would agree that we would avoid passing on a fatal childhood illness, such as Tay-Sachs, if we could. What about disorders that are serious but not life-threatening? The answer of course will vary person by person. But where people are in the family planning process can also make a difference. Seeking out information as early as possible – ideally prior to conception – can help parents-to-be feel empowered rather than anxious.

A recent NPR story shared one couple’s experience with expanded carrier screening during pregnancy to explore whether more information is helpful or harmful. Test results indicated their baby could inherit spinal muscular atrophy, leaving them worried and in search of a genetic counselor. Their daughter was ultimately born healthy, but the experience was an added stressor. Fortunately, there are ways to improve the screening experience and reduce the likelihood of finding yourself in a similar situation.

First, consider preconception carrier screening. This allows you to talk about risk and make an informed decision while it’s still hypothetical. Most families will receive information that helps them worry less (97% of babies born healthy, as the NPR article points out). For couples who learn they carry the same recessive disorder, preconception screening provides more options for having a healthy baby. Even those who don’t choose to alter their approach to family planning can benefit from this knowledge by preparing for early intervention.

Second, ensure you have access to expertise. Consider screening through a doctor’s office or community program – such as the one offered by the Norton & Elaine Sarnoff Center for Jewish Genetics – that includes genetic counseling as part of the pre- and post-screening process. Before the test, education can help you understand what the test screens for and the potential outcomes. Afterward, receiving results from a genetic counselor or doctor with expertise in genetics ensures a thorough explanation and an opportunity to ask questions.

Genetic counselors can also help you understand risk, which often poses a challenge. Beyond understanding numbers and statistics, it’s hard to take our feelings out of the equation and focus on facts with something that feels so personal, like our health and the health of families. Genetic counselors are trained in both medical genetics and counseling to empower you with information and provide emotional support.

The journey to become a parent is exciting – and also filled with many unknowns. Take away one by getting screened earlier and with guidance from a genetic counselor.

To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit JewishGenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org. 

John Snow created this map showcasing all the cholera cases near the Broad Street water pump. 

By Becca Bakal, MPH

This National Public Health Week, I’m thinking about what working in public health means to me. At its most basic level, public health is about looking at health from the level of a population, instead of focusing on an individual.

I like to think of it as working upstream, where clinical healthcare is downstream. Public health is about preventing problems, more than fixing them (although that’s part of it too).  

Most people would trace the field of public health to 1854, when John Snow identified and shut off a contaminated water supply that had caused a cholera outbreak in London.

Snow mapped all the cases of cholera in the outbreak and found out that they all had something in common: they were near one water pump. He had the handle taken off the pump, and the cholera outbreak ended.

Snow took a birds-eye view of a health issue that was impacting a group of people -- in this case a neighborhood. Because he zoomed out and literally focused upstream, he was able to identify the cause of the issue and intervene to prevent more people from falling ill.

This is similar to our work at the Norton & Elaine Sarnoff Center for Jewish Genetics. We strive to help families who are at risk of certain genetic health conditions by reaching them early, when they can address that risk and prevent illness. In our work, focusing upstream means:

• First and foremost, educating individuals of Jewish ancestry and professionals who care for those individuals – such as rabbis and doctors – about how ancestry is linked to genetic risks.
• Facilitating access to carrier screening for folks who are starting their families, to help one generation  learn about the risk it can pass on to the next. Screening is a classic example of a public health initiative: it helps to identify potential health problems early, in this case by looking at one generation to determine the risk to the next generation.
• Encouraging families to look at past health history for clues about future health risks.
• Linking families to a genetic counselor and additional resources if they want to learn more about, or pursue, other types of genetic testing and screening—for example, testing for BRCA gene mutations that increase risk for certain types of cancer.

Although in many ways public health principles and techniques have evolved since the time of John Snow, in other ways they have stayed the same. We still prevent illness by working upstream.

I feel lucky to be part of a tradition of folks improving the health of the public, and part of a community of innovators building new and improved techniques to meet the demands of the future. Happy National Public Health Week!

By Anna Kheyfets

Part 3 - What does this mean for ME?

In part one of this series, you learned about BRCA genes and why someone with a family history of cancer, like myself, may or may not choose to get tested. In part two, you learned about possible results of a BRCA genetic test. In the third and final installment of this series, I explore what BRCA testing meant for me.

Many genetic mutations are inherited from your biological parents. Finding out that a family member, like your mom, has cancer can be devastating and it may take time to decide whether it is right for you to go through testing. Being tested allows you to work with your doctor or genetic counselor to create a personalized plan that allows for early detection and care. It gives you the option of making changes in your life now to help prevent cancer in the future if you find you have a higher risk. However, you can also make proactive changes without choosing to test.

The long(er) answer is, if you are thinking about testing, take your time and do your research. Advocate for yourself. Speak to a genetic counselor to help assess your risk, your options, and to better understand the process. The decision to be tested can be emotional with many of the “what ifs.” When being tested, I began to fill with questions about the risks of genetic testing, like:

• What would my life look like if I test positive for a cancer gene?
  
• Would I have to have my ovaries, uterus, or breasts removed? When? 
  
• If I have these surgeries, what will that mean for my body image? 
  
• Can I have children? Will they get this gene?

I had all these questions, and more, when I was tested. I kept envisioning future conversations with partners, friends and family should I find out that I have the gene. I asked my doctor what impact this test would have on my physical health, but also my sexual and mental health. She reassured me that it was in my own hands, and regardless of what the results said, I would have support and options for what to do next. If the results came back positive for the genetic mutation, I would have the option to wait until I was older to consider some preventative measures.

Preventive measures such as breast, uterus and ovary removal can affect your body image and sex life. These are your sex organs—of course, sex will look different without them! A WomanLab blogger once told us that, “the peace of mind regarding my healthy future far outweighs the persistent body image issues that accompany waking up in a new body that looks and feels very unnatural.”

When considering genetic testing and preventive treatments, it is important that women have information about what changes these health-preserving treatments might cause and the ways in which negative side effects can be treated.

Ok, I thought, I am ready for whatever comes my way. But here’s the thing… I don’t think I was. I wasn’t prepared for my heart beating out of my chest when I went back in to get my results, but I also wasn’t prepared for the wave of relief that washed over me when I learned I didn’t have the gene mutation.

As it turns out, I did not feel equipped for the possibility to learn that I did have the gene. What would I tell my mom? My sister? Would I pass the gene mutation onto my future kids? Will I even have kids? Luckily, my results came back with no indication of BRCA gene mutations so I did not have to have all these questions answered. It was a relief, but also only a small aspect of the many factors that build up and determine whether I will have cancer in the future.

Ok, so you’ve done your research and maybe I’ve piqued your interest. If you feel ready, talk to your doctor and a genetic counselor about if genetic testing is right for you.

Not sure where to get started? The Sarnoff Center offers access to a genetic counselor who can answer questions, provide guidance, and help each individual identify an appropriate clinical resource if needed. Contact us at (312) 357-4718 or GeneticScreening@juf.org for more information.  

Anna Kheyfets is a senior at the University of Chicago. She will be graduating March 2019 with a degree in Anthropology and Biology. She is an avid reader, writer, New Yorker, and proponent of women’s health and rights. She has been an intern at WomanLab (www.womanlab.org) in the Lindau Lab at the University of Chicago since January 2018, where she has contributed to blog content, analytics and the other research efforts. What’s next? After graduation she will be continuing her research in Women’s Health back in NYC during her gap year before she begins medical school and is looking forward to some lengthy subway rides.

By Anna Kheyfets

Part 2 - What do BRCA genetic test results mean?

In part one of this series, you learned about BRCA genes and why someone with a family history of cancer, like myself, may or may not choose to get tested. In the second part of this series, I explore possible results of a BRCA genetic test.

Okay now, what do the results even mean? Here’s the nitty-gritty:

If you got a negative result, as a woman whose biological mother had ovarian cancer and a BRCA gene mutation, it would mean:

• The test did not find a known cancerous mutation in the BRCA genes. If you get breast or ovarian cancer in the future then this particular gene probably did not cause it. It also means that your biological siblings are also less likely to have the mutation.
• You have the same risk factor as the average person (about 8%), even though your mother has the gene mutation. You cannot pass on the mutation to your children, because you do not have it.

A negative result when no mutation has been identified in your family does not answer many questions. It could be there are other genetic factors that caused your family member’s cancer that were not included in the genetic test, since cancer comes from many different things. Risk is always increased if a cancer runs in your family. Lacking the specific genetic mutation just means that you do not have that additional risk.

But, if you got a positive result, it would mean:

• The test showed that you have a BRCA1/2 mutation that is known to cause hereditary breast and ovarian cancer.
• Your family (including siblings and biological children) would then also be at an increased risk for that genetic mutation. They can also be tested to see if they have it, but that will be up to them and you, if you decide to disclose your status.
• Your “positive” status can help either guide your treatment if you are diagnosed with breast or ovarian cancer in the future or it can help create a screening plan that will make the development of cancer less likely through early detection and preventative measures.

Though less common, you could receive an ambiguous result, which would mean:

• The test showed that you have a mutation, but it has not been seen before or been associated with cancer. These mutations are called “variants of uncertain significance” or VUS. With a VUS result, it is unclear if the mutation can lead to cancer. Receiving a complicated result like a VUS can sometimes be more difficult than receiving a positive result. A genetic counselor can help you understand what we do know about the mutation so far and what this means for you.
• As researchers continue to study BRCA mutations and as more people are tested, there will be more information about what it means to have these mutations and how it affects your cancer risk. It helps to keep in touch with a genetic counselor over time to see if the specific mutation has been re-classified as cancer-causing or not harmful.
  

Should you have genetic testing? The short answer is, it’s up to you. There is no right answer. In Part 3 I will delve deeper into my reasoning for getting tested and going through my results.

Anna Kheyfets is a senior at the University of Chicago. She will be graduating March 2019 with a degree in Anthropology and Biology. She is an avid reader, writer, New Yorker, and proponent of women’s health and rights. She has been an intern at WomanLab (www.womanlab.org) in the Lindau Lab at the University of Chicago since January 2018, where she has contributed to blog content, analytics and the other research efforts. What’s next? After graduation she will be continuing her research in Women’s Health back in NYC during her gap year before she begins medical school and is looking forward to some lengthy subway rides.