Category Archives: Genetic Medicine

(CNN) Researchers believe they have found evidencethat the novel coronavirus may have been circulating in the US as early as late December, about a month before the current timeline from the US Centers for Disease Control and Preventionshows.

This study, published last Thursday in the Journal of Medical Internet Research, found a statistically significant uptick in clinic and hospital visits by patients who reported respiratory illnesses as early as the week of December 22.

The researchers noticed this trend by looking through nearly 10 million medical records from the UCLA Health system, including three hospitals and 180 clinics.

The first known case of Covid-19 in the US was thought to be a patient in Washington whohad visitedWuhan,China,according to the CDC.The 35-year-old patient first went to a clinic for symptoms on January 19, according to a report that ran inMarch in the New England Journal of Medicine. It wasnt until late February that the CDC detected the first cases of community spread, although the CDC later found evidence community transmissionbegan in late February.

InChina, the first known case of Covid-19 was in a person who developed symptoms on December 1, according to a study from the Lancet. That means the patient could have been exposed to the disease as early as November. A handful of ongoing studies have found some evidence that the virus may have beencirculating in Europein December,or earlier.

Dr. Joann Elmore, who worked on the new study, said she started looking through the records after receiving a number of emails from anxious patients in March through her clinics patient portal at UCLA. Patients kept asking if the cough they had in January could have been Covid-19. The UCLA physician, who also trained as an epidemiologist, said she was curious, so she started this study.

Elmore and her colleagues noticed the spike in respiratory cases by searching the field in medical records that lists why someone came to the clinic and searched for the symptom cough. They looked at the records for the month of December 2019 through February 2020 and compared their findings to records from the five prior years.

With the outpatients, I found a 50% increase in the percentage of patients coming in complaining of a cough. It came out to over 1,000 extra patients above the average of what we would typically see, Elmore said.

The number of patient visits to the ER for respiratory complaints, as well as the number of people hospitalized with acute respiratory failure between December 2019 and February 2020, showed a similar increase compared to records from the past five years. The uptick in cases started in the final week of December.

Some of these cases could have been due to the flu, some could be for other reasons, but to see these kinds of higher numbers even in the outpatient setting is notable, Elmore said.

While scientists may never know for sure if these excess patients were early Covid-19 cases, Elmore doesnt think its out of the question.

Our world is so interconnected. There are about 500 flights from China a month to LAX, so you could easily have one or two cases from that travel and it could get into the community, Elmore said.

Elmore hopes this research shows that real time data collected on diseases like this could potentially help public health experts identify and track emerging outbreaks much earlier and potentially slow or stop the spread of disease.

Dr. Claudia Hoyen,is an infectious disease specialist at University Hospitals Cleveland Medical Center who did not work on the study, also believes its possible Covid-19 may have been in the US much sooner than first realized.

Based on what we know of a few other studies and now this one, I think definitely this could be something, Hoyen said. Its certainly something that needs to be considered.

Hoyen said the bigger takeaway from this study for her was that it points to the possibility that data like this could augment some of the disease surveillance the CDC is already doing for diseases like flu.

Is there a way to mine the data in other ways that may have picked up on some of the other symptoms that people were presenting with, so we had a better understanding of disease sooner? Hoyen asked. Then maybe instead of a month into it, like when we were seeing a lot of patients complaining of loss of taste and smell, if we had analyzed the data beforehand, we may have picked up those kinds of symptoms much sooner.

Kristian Andersen, a professor in the Department of Immunology and Microbiology at Scripps Research, doesnt believe Covid-19 is to blame for the rise in the number of patients with respiratory ailments in California in late December.

We know from the SARS-CoV-2 genetic data that the pandemic started in late November / early December in China so theres absolutely no way the virus could have been spreading widely in December 2019. From the same genetic data we know that widespread transmission didnt start in the United States until (around) February 2020, Andersen said in an email.

The paper is picking up spurious signals and the hospitalizations are more likely from flu or other respiratory diseases, Andersen wrote. Again, the genomic data clearly shows that there was no widespread transmission of SARS-CoV-2 in the United States in December of last year there may have been a few sporadic cases, but thats it and certainly not something that would have been seen in excess hospitalizations.'

Dr. Jeanne Marrazzoan infectious disease specialist who also was not involved in the study, disagrees. She thinks the conclusion, particularly since the study captures outpatient records, is persuasive.

If we had more precise genetic phylogenetic data of the spread of the virus, I think that could be very interesting, but in the absence of that, you can do a lot of work by inferring some preexisting patterns from these types of analyses, said Marrazzo, the director of the division of infectious diseases at the University of Alabama School of Medicine at Birmingham. Primary care data like this is useful and we really need to pay attention to it.

When you compare these numbers to previous years, theres no good explanation in my mind why all of the sudden you would see that dramatic increase in the records, except for Covid, Marrazzo said. Just the strength of the numbers of information, when you include the outpatient, it shows a pattern.

Neither the CDC nor the WHO responded to CNNs request for perspective on the research or on the official time line of the pandemic.

Marrazzo said she and infectious disease colleagues across the country have been discussing how often they were seeing patients with what we now know as Covid-19 symptoms earlier than the official timeline. Because of the sharp restrictions the CDC placed on testing early in the pandemic, it was difficult to confirm if respiratory cases they were seeing were caused by coronavirus.

I have no doubt that we all missed cases in the early part of the pandemic, Marrazzo said. This study offers a really interesting window into what might actually have been happening.

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Study Hints COVID-19 May Have Been In The US As Early As December - CBS Baltimore

Many people require fertility assistance to have children. This could either be due to a diagnosis of infertility, or because they are in a same-sex relationship or single and desire children. While there are several forms of fertility assistance, many services are out of reach for most people because of cost. Fertility treatments are expensive and often are not covered by insurance. While some private insurance plans cover diagnostic services, there is very little coverage for treatment services such as IUI and IVF, which are more expensive. Most people who use fertility services must pay out of pocket, with costs often reaching thousands of dollars. Very few states require private insurance plans to cover infertility services and only one state requires coverage under Medicaid, the health coverage program for low-income people. This widens the gap for low-income people, even when they have health coverage. This brief examines how access to fertility services, both diagnostic and treatment, varies across the U.S., based on state regulations, insurance type, income level and patient demographics.

Infertility is most commonly defined as the inability to achieve pregnancy after 1 year of regular, unprotected heterosexual intercourse, and affects an estimated 10-15% of heterosexual couples. Both female and male factors contribute to infertility, including problems with ovulation (when the ovary releases an egg), structural problems with the uterus or fallopian tubes, problems with sperm quality or motility, and hormonal factors (Figure 1). About 25% of the time, infertility is caused by more than one factor, and in about 10% of cases infertility is unexplained. Infertility estimates, however do not account for LGBTQ or single individuals who may also need fertility assistance for family building. Therefore, there are varied reasons that may prompt individuals to seek fertility care.

A broad array of diagnostic and treatment services may be necessary to assist in fertility (Table 1). Diagnostics typically include lab tests, a semen analysis and imaging studies or procedures of the reproductive organs. If a probable cause of infertility is identified, treatment is often directed at addressing the source of the problem. For example, if someone has abnormal thyroid hormone levels, thyroid medications may help the patient achieve pregnancy. If a patient has large fibroids distorting the uterine cavity, surgical removal of these benign tumors may allow for future pregnancy. Other times, other interventions are needed to help the patient achieve pregnancy. For example, if a semen analysis reveals poor sperm motility or the fallopian tubes are blocked, the sperm will not be able to fertilize the egg, and intrauterine insemination (IUI) or in-vitro fertilization (IVF) may be necessary. These procedures also facilitate family building for LGBTQ and single individuals, with use of donor egg or sperm, with or without a gestational carrier (surrogacy).

Our analysis ofthe 2015-2017 National Survey of Family Growth (NSFG) finds that 10% of women ages 18-49 say they or their partner have ever talked to a doctor about ways to help them become pregnant (data not shown). Among women ages 18-49, the most commonly reported service is fertility advice (Figure 2).

The CDC finds that use of IVF has steadily increased since its first successful birth in 1981. According to the most recent data, an estimated 1.8% of U.S. infants are conceived annually using assisted reproductive technology (ART) (e.g., IVF and related procedures). The proportions are highest in the Northeast (MA 4.7%, CN 3.9%, NJ 3.9%), and lower in the South and Southwest (NM 0.4%, AR 0.6%, MS 0.6%).

Utilization of fertility services has dropped drastically during the COVID-19 public health emergency. On March 17, 2020 the American Society for Reproductive Medicine (ASRM) issued guidelines to stop all new fertility treatment cycles and non-urgent diagnostic procedures. Since then, ASRM has provided updated guidance on what conditions should be met and measures should be taken before safely resuming fertility care. During this time, a study by Strata Decision Technology of 228 hospitals across 40 states found patient encounters for infertility services were down 83% from March 22 to April 4, 2020 compared to this time the year prior.

Many patients lack access to fertility services, largely due to its high cost and limited coverage by private insurance and Medicaid. As a result, many people who use fertility services must pay out of pocket, even if they are otherwise insured. Out of pocket costs vary widely depending on the patient, state of residence, provider and insurance plan. Generally, diagnostic lab tests, semen analysis and ultrasounds are less expensive than diagnostic procedures (e.g., HSG) or surgery (e.g., hysteroscopy, laparoscopy). Meanwhile treatment using fertility medications is less expensive than IUI and IVF, but even the less costly treatments can still result in thousands of dollars of out of pocket costs. Many people must try multiple treatments before they or their partner can achieve a pregnancy (typically medication first, followed by surgery or fertility procedures if medications are unsuccessful). A study of nearly 400 women undergoing fertility care in Northern California demonstrates this overall trend, with the lowest out of pocket spending on treatment with medication only and the highest costs for IVF services (Figure 3). Prior research showed the cost of just one standard cycle of IVF was approximately $12,500 in 2009, but is likely higher today due to rising health care costs overall. Furthermore, many patients require several rounds of treatment before achieving a pregnancy, with costs accruing each cycle making these interventions financially inaccessible for many. In addition to costs for the actual treatment, patients can be saddled with out of pocket expenses for office visits, diagnostic tests/procedures, genetic testing, donor sperm/egg use and storage fees and wages lost from time off work.

Insurance coverage of fertility services varies by the state in which the person lives and, for people with employer-sponsored insurance, the size of their employer. Many fertility treatments are not considered medically necessary by insurance companies, so they are not typically covered by private insurance plans or Medicaid programs. When coverage is available, certain types of fertility services (e.g., testing) are more likely to be covered than others (e.g., IVF). A handful of states require coverage of fertility services for some fully-insured private plans, which are regulated by the state. These requirements, however, do not apply to health plans that are administered and funded directly by employers (self-funded plans) which cover six in ten (61%) workers with employer-sponsored health insurance. States also have purview over the benefits covered by their Medicaid programs. The federal government has authority over benefit requirements in federal health coverage programs, including Medicare, the Indian Health Service (IHS) and military health coverage.

Fifteen states have laws in effect requiring certain health plans to cover at least some infertility treatments (a mandate to cover) (Figure 4). Additionally, Colorado recently enacted a requirement for individual and group health benefit plans to cover infertility diagnosis, treatment and fertility preservation for iatrogenic infertility, effective January 2022. Among states that do not have a mandate to cover, nine states and DC have a benchmark plan that includes coverage for at least some infertility services (diagnosis and/or treatment) for most individual and small group plans sold in that state. Two states (CA and TX) require group health plans to offer at least one policy with infertility coverage (a mandate to offer), but employers are not required to choose these plans.

However, in states with mandate to cover laws, these only apply to certain insurers, for certain treatment services and for certain patients, and in some states have monetary caps on costs they must cover (Appendix 1). For example, in OH and WV, the requirement to cover infertility services only applies to health maintenance organizations (HMOs). In other states, almost all insurers and HMOs are included in the mandate. Many states provide exemptions for small employers (<50 employees) or religious employers. In addition, state laws do not apply to self-funded (or self-insured) employer plans, which are regulated by federal law. Sixty-one percent of covered workers are enrolled in a self-funded plan.

Even in states with coverage laws, not all patients are eligible for infertility treatment. In HI, someone with unexplained infertility only qualifies for IVF after five years of infertility. In others, patients are eligible after 1 year. Some states place age limits on female patients who can access these services (e.g., ineligible if 46 or older in NJ or if under age 25 or older than 42 in RI). Others place restrictions based on marital status; for example, until May 2020, IVF benefits were only available to married women in MD. Recently enacted legislation now expands coverage to unmarried women. Additionally, it is not always made clear if LGBTQ individuals meet eligibility criteria for these benefits, without a diagnosis of infertility. Furthermore, many costs associated with surrogacy are often not covered by insurance.

States also vary in which treatment services they require plans to cover. Some states mandate insurers to cover cryopreservation for persons with iatrogenic infertility, while others do not. Four states with insurer mandates do not cover IVF. Eleven states do, but with a dollar limit on coverage (e.g., $15,000 lifetime max in AR and $100,000 in MD and RI) or a limit on the number of cycles they will cover (e.g., one cycle of IVF in HI and three cycles in NY).

IVF utilization appears to be higher in states with mandated IVF coverage. CDC data from 2016 showed that in three of the four states deemed by the CDC to have comprehensive coverage for IVF (IL, MA, NH), use of assisted reproductive technology was 1.5 times higher than the national rate. Similarly, a national study found that IVF availability and utilization were significantly higher in states with mandated IVF coverage. A study in MA found IVF utilization increased after implementation of their IVF mandate, but overutilization by patients with a low chance of pregnancy success was not found. State level mandates can also help reduce inequities in access. For example, a recent bill proposed in the CA legislature would reverse existing limitations on fertility coverage and make the benefit available to single women and women in same sex relationships.

While the costs of fertility treatments can be very expensive for those who lack coverage, the cost of covering fertility benefits varies depending on the services covered and utilization with implications for state budgets, employers, and policy holders. For example, in 2019, New York passed a bill to require IVF and fertility preservation services for comprehensive private health insurance policies. The New York State Department of Financial Services estimated that premiums would increase 0.5% to 1.1% due to mandating IVF coverage, and 0.02% for mandating fertility preservation for iatrogenic infertility (caused by medical treatments).

An analysis of a bill proposed in CA to require private plans and Medi-Cal managed care plans to cover IVF services estimated that per member per month premiums would increase by approximately $5 in the private market and less than a $1.00 for Medi-Cal plans. Overall though, out of pocket spending for individuals seeking services would decrease substantially.

Data from MA, CT and RI suggest that mandating coverage does not appear to raise premiums significantly. All three states have been mandating infertility benefits for over 30 years, and estimate the cost of infertility coverage to be less than 1% of total premium costs. In 2017, California was considering a more limited bill that would require fertility preservation for iatrogenic infertility in certain individual and group health plans. As the bill was introduced, it was estimated to result in a net annual increase of $2,197,000 in premium costs or 0.0015% for enrollees in plans subject to the mandate.

While these costs could be modest in comparison to the costs of paying out-of-pocket for these services, there are other costs to coverage mandates. The ACA requires states to offset some of the costs for any state mandated benefits beyond essential health benefits (EHBs) in the individual and small group market. This requirement was estimated to cost NY $59 to $69 million per year if covering one cycle or $98 to $116 million per year if covering unlimited cycles of IVF.

Large employers are more likely than smaller employers to include fertility benefits in their employer-sponsored health plans. According to Mercers 2017 National Survey of Employer-Sponsored Health Plans, 56% of employers with 500 or more employees cover some type of fertility service, but most do not cover treatment services such as IVF, IUI, or egg freezing. Coverage is higher for diagnostic evaluations and fertility drugs. Coverage is more common among the largest employers and those that offer higher wages (Figure 5).

NSFG data show that significantly fewer women with Medicaid have ever used medical services to help become pregnant compared to women with private insurance. As of January 2020, our analysis of Medicaid policies and benefits reveal only one state, New York, specifically requires their Medicaid program to cover fertility treatment (limited to 3 cycles of fertility drugs) (Figure 6). However, some states may require Medicaid to cover treatments for conditions that impact fertility, while not directly stated in their policies. For example, states may cover thyroid medications, or cover surgery for fibroids, endometriosis or other gynecologic abnormalities if causing pelvic pain, abnormal bleeding or another medical problem, other than infertility. No state Medicaid program currently covers artificial insemination (IUI), IVF, or cryopreservation (Appendix 2).

Some states specifically cover infertility diagnostic services; GA, HI, MA, MI, MN, NH, NM and NY all offer at least one Medicaid plan with this benefit, but the range of diagnostics covered varies. For example, New York Medicaid specifically covers office visits, HSGs, pelvic ultrasounds and blood tests for infertility. Meanwhile, the infertility assessment covered by Georgia Medicaid includes lab testing, but not imaging or procedural diagnostics. Other states specifically do not cover infertility diagnostics, or more generally do not cover infertility services, which likely includes diagnostics. Others do not mention infertility diagnostics in their Medicaid policies, meaning the beneficiary would need to check with their Medicaid program to see if these services are covered (Appendix 2).

The Medicaid programs lack of coverage of fertility assistance has a disproportionate impact on women of color. Among reproductive age women, the program covers three in ten (30%) who are Black and one quarter who are Hispanic (26%), compared to 15% who are White. Because eligibility for Medicaid is based on being low-income, people enrolled in the program likely could not afford to pay for services out of pocket.

The relative lack of Medicaid coverage for fertility services stands in stark contrast to Medicaid coverage for maternity care and family planning services. Nearly half of births in the U.S. are financed by Medicaid, and the program finances the majority of publicly-funded family planning services. Therefore, while there is broad coverage of many services for low-income people during pregnancy and to help prevent pregnancy, there is almost no access to help low-income people achieve pregnancy.

While most beneficiaries of Medicare are over the age of 65+, Medicare also provides health insurance to approximately 2.5 million reproductive age adults with permanent disabilities. According to the Medicare Benefit policy manual, reasonable and necessary services associated with treatment for infertility are covered under Medicare. However, specific covered services are not listed, and the definition of reasonable and necessary are not defined.

TRICARE: TRICARE, the insurance program for military families, will cover some infertility services, if deemed medically necessary and if pregnancy is achieved through natural conception, meaning fertilization occurs through heterosexual intercourse. Diagnostic services are covered, including lab testing, genetic testing, and semen analysis. Treatment to correct physical causes of infertility are also covered. However, IUI, IVF, donor eggs/sperm and cryopreservation are not typically covered, unless the service member had a serious injury while on active duty resulting in infertility.

Veterans Affairs (VA): Infertility services are covered by the VA medical benefits package, if infertility resulted from a service-connected condition. This includes infertility counseling, blood tests, genetic counseling, semen analysis, ultrasound imaging, surgery, medications and IVF (as of 2017). However, the couple seeking services must be legally married, and the egg and sperm must come from said couple (effectively excluding same sex couples). Donor eggs/sperm, surrogacy or obstetrical care for non-Veteran spouses are not covered.

The CDCs and Office of Population Affairs (OPA) Quality Family Planning recommendations address provision of basic infertility services. Family planning providers are recommended to provide at minimum patient education about fertility and lifestyle modifications, a thorough medical history and physical exam, semen analysis, and if indicated, referrals for lab testing of hormone levels, additional diagnostic tests (endometrial biopsy, ultrasound, HSG, laparoscopy) and prescription of medications to promote fertility. However, studies of publicly funded family planning clinics suggest that availability of infertility services is uneven. In a 2013-2014 study of 1615 publicly funded clinics, a high share reported offering preconception care (94% for women and 69% for men), but fewer offered any basic infertility services (66% for women and 45% for men). Provision of any infertility treatment was uncommon (16% of clinics), likely requiring referrals to specialists who may not accept Medicaid or uninsured patients. The majority of patients who rely on publicly funded clinics are low-income and would not likely be able to afford infertility services and treatments once diagnosed.

Per the Indian Health Services (IHS) provider manual, basic infertility diagnostics should be made available to women and men at IHS facilities, including a history, physical exam, basal temperature charting (to predict ovulation), semen analysis and progesterone testing. In facilities with OBGYNs, HSG, endometrial biopsy and diagnostic laparoscopy should also be available. However, it is unclear how accessible these services are in practice, and provision of infertility treatment is not mentioned.

The ability tohave and care for thefamily that you wish for is a fundamental tenet ofreproductive justice. For thosewho needit, this includes access to fertilityservices.The share of racial and ethnic minorities who utilize medical services to help become pregnant is less than that of non-Hispanic White women, despite research that has found higher rates of infertility among women who are Black and American Indian / Alaska Native (AI/AN). Our analysis of 2015-2017 NSFG data shows that while 13% of non-Hispanic White women reported ever going to a medical provider for help getting pregnant, just 6% of Hispanic women and 7% of non-Hispanic Black women did so (Figure 7). A higher share of Black and Hispanic women are either covered by Medicaid or uninsured than White women and more women with private insurance sought fertility help than those with Medicaid or the uninsured. A variety of factors, including differences in coverage rates, availability of services, income, and serviceseeking behaviors, affect access to infertility care. Furthermore, other societal factors also play a role. Misconceptions and stereotypes about fertility have often portrayed Black women as not requiring fertility assistance. Combined with the history of discriminatory reproductive care and harm inflicted upon many women of color over decades, some may delay seeking infertility care or may not seek it at all.

Other research has found that use of fertility testing and treatment also varies by race. An analysis of NSFG data found that among women who reported using medical services to help become pregnant, similar shares of Black (69%), Hispanic (70%) and White (75%) women received fertility advice. However, less than half (47%) of Black and Hispanic women who used medical services to become pregnant reported receiving infertility testing, compared to 62% of White women, and even fewer women of color received treatment services. According to an analysis of surveillance data of IVF services, use is highest among Asian and White women and lowest among American Indian / Alaska Native (AI/AN) women. Racial inequities may exist for fertility preservation as well; a study of female patients in NY with cancer found disproportionately fewer Black and Hispanic patents utilized egg cryopreservation compared to White patients. On average, more Black, Hispanic, and AI/AN people live below the federal poverty level than people who are White or of Asian/Pacific Islander descent. The high cost and limited coverage of infertility services make this care inaccessible to many people of color who may desire fertility preservation, but are unable to afford it.

Iatrogenic, or medically induced, infertility refers to when a person becomes infertile due to a medical procedure done to treat another problem, most often chemotherapy or radiation for cancer. In these situations, persons of reproductive age may desire future fertility, and may opt to freeze their eggs or sperm (cryopreservation) for later use. The American Society for Reproductive Medicine (ASRM) encourages clinicians to inform patients about fertility preservation options prior to undergoing treatment likely to cause iatrogenic infertility.

However, the cost of egg or sperm retrieval and subsequent cryopreservation can be prohibitive, particularly if in the absence of insurance coverage. Only a handful of states (CT, DE, IL, MD, NH, NJ, NY, and RI) specifically require private insurers to cover fertility preservation in cases of iatrogenic infertility. No states currently require fertility preservation in their Medicaid plans.

LGBTQ people may face heightened barriers to fertility care, and discrimination based on their gender identity or sexual orientation. Section 1557 of the Affordable Care Act (ACA) prohibits discrimination in the health care sector based on sex, but the Trump Administration has eliminated these protections through regulatory changes. Without the explicit protections that have been dropped in the current rules, LGBTQ patients may be denied health care, including fertility care, under religious freedom laws and proposed changes to the ACA. However, these changes are being challenged in the courts because they conflict with a recent Supreme Court decision stating that federal civil rights law prohibits discrimination based on sexual orientation and gender identity.

In a committee opinion, ASRM concluded it is the ethical duty of fertility programs to treat gay and lesbian couples and transgender persons, equally to heterosexual married couples. They write that assisted reproductive therapy should not be restricted based on sexual orientation or gender identity, and that fertility preservation should be offered to transgender people before gender transitions. This allows transgender individuals the ability to have biological children in the future if desired. Despite this recommendation, in aforementioned states with mandated fertility preservation coverage for iatrogenic infertility, it remains unclear if this benefit extends to transgender individuals, whose gender affirming care can result in infertility. Additionally, many state laws regarding mandates for infertility treatment contain stipulations that may exclude LGBTQ patients. For example, in Arkansas, Hawaii and Texas and at the VA, IVF services must use the couples own eggs and sperm (rather than a donor), effectively excluding same sex couples. In other states, same-sex couples do not meet the definition of infertility, and thus may not qualify for these services. Data are lacking to fully capture the share of LGBTQ individuals who may utilize fertility assistance services. Research studies on family building are often not designed to include LGBTQ respondents fertility needs.

Single persons are often excluded from access to infertility treatment. For example, the same IVF laws cited above that require the couples own sperm and egg, effectively exclude single individuals too, as they cannot use donors. Some grants and other financing options also stipulate funds must go towards a married couple, excluding single and unmarried individuals. This is in opposition to the ASRM committee opinion, which states that fertility programs should offer their services to single parents and unmarried couples, without discrimination based on marital status.

On a federal level, efforts to pass legislation to require insurers to cover fertility services are largely stalled. The proposed Access to Infertility Treatment and Care Act (HR 2803 and S 1461), which would require all health plans offered on group and individual markets (including Medicaid, EHBP, TRICARE, VA) to provide infertility treatment, is still in committee (and never made it out of committee when proposed during the 115th congress). There has been some more movement on the state level. Some states require private insurers to cover infertility services, the most recent of which was NH in 2020. Currently, NY continues to be the first and only state Medicaid program to cover any fertility treatment.

For those who desire to have children, obtaining fertility care can be a stressful process. Stigma around infertility, intensive and sometimes long orpainfultreatment regimens, and uncertainty about successcantake a toll. On top of that, in the absence of insurance coverage, infertility care is cost prohibitive for most, particularly for low-income people and for more expensive services, like IVF or fertility preservation. Significant disparities exist within access to infertility services across, dictated by state of residence, insurance plan, income level, race/ethnicity, sexual orientation and gender identity. Achieving greater equity in access to fertility care will likely depend on addressing the needs faced by low-income persons, people of color and LGBTQ persons in fertility policy and coverage.

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Coverage and Use of Fertility Services in the U.S. - Kaiser Family Foundation

If a patient learns that they do carry a mutation in their BRCA1 or BRCA2 genes, a genetic counselor can discuss potential options with them.

A common option for women is to undergo increased screening, including getting a breast exam from a health care provider every six months, and also a yearly mammogram and breast MRI.

There are also medications that people with BRCA gene mutations can take to reduce the risk of developing breast cancer, she says.

Doctors call these medications chemoprevention, but that makes it sound like chemotherapy, which its not, Milliron says. It is a medication that you do take for several years, and I think it's really important to have that discussion about the pros and cons and what to expect with a specialized health care provider. Women have to be at least age 35 and finished with family planning before they can consider taking a medication to reduce the risk of developing breast cancer because there is a risk of causing birth defects.

The medication that is usually given to premenopausal women is called tamoxifen, and studies point to more clear benefit for women with BRCA2 mutations. There are additional, related medications that are usually prescribed to postmenopausal women if tamoxifen is not a good option for those women.

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Some women chose to have both breasts removed a prophylactic/risk reducing bilateral mastectomy which has been shown to reduce the risk of developing breast cancer by about 90% to 95%, Milliron notes.

This is obviously a very, very personal choice, Milliron says. If you look at the statistics of the women who choose increased screening with mammogram and breast MRI, and the women who choose risk reducing or prophylactic bilateral mastectomy, there is no difference in the chance of passing away from breast cancer between those two groups. So that is something that I think is very important for patients to know and to understand.

These decisions can be influenced by watching family or friends go through cancer treatment, as can family dynamics as well as cultural and religious considerations, she adds.

Ovarian cancer is a different story than breast cancer, however.

I've been a genetic counselor for 22 years, and that is the only thing that has not yet changed about my job is that we still do not have a screening tool for ovarian cancer that works, Milliron says. So for a woman who has a BRCA1 gene mutation, we usually talk about having the ovaries and the fallopian tubes removed between 35 and 40. And then for a woman who has a BRCA2 gene mutation, we usually talk about having them removed between 45 and 50.

While the statistics vary slightly between studies, research shows this surgery can reduce the risk of developing ovarian cancer and fallopian tube cancer by 80 to 95%.

Birth control pills are also a potential option for women with these mutations to reduce their risk of developing ovarian cancer.

That may influence their breast cancer risk, however, so that's a conversation that we have to have, Milliron adds.

Men who carry a BRCA1 or BRCA2 gene mutation, are at increased risk for prostate cancer. And these can be more aggressive and develop at younger ages. For them increased screening starting about age 40 to 45 is recommended, including prostate-specific antigen, commonly referred to as PSA, testing and a digital rectal exam yearly.

The Rogel Cancer Center is very lucky to have a prostate cancer risk assessment clinic, Milliron says. So many times men are somewhat forgotten in the BRCA1, BRCA2 picture.

You can learn more about cancer genetics on the Rogel Cancer Centers website.

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BRCA1 and BRCA2 Gene Mutations: I Have a Mutation, What Are My Options? - University of Michigan Health System News

AUSTIN, Texas One of the biggest scientific advances of the last decade is getting better thanks to researchers at The University of Texas at Austin; the University of California, Berkeley; and Korea University. The team has developed a new tool to help scientists choose the best available gene-editing option for a given job, making the technology called CRISPR safer, cheaper and more efficient. The tool is outlined in a paper out today in Nature Biotechnology.

The CRISPR gene-editing technique holds tremendous potential to improve human health, agriculture and the future of people on the planet, but the challenge lies in the delicate nature of gene editing there is almost no room for error.

To edit genes, scientists use dozens of different enzymes from a naturally occurring system called CRISPR. Researchers locate a problematic DNA sequence and use these specialized enzymes to snip it as if using a pair of scissors, allowing genetic material to be added, removed or altered. But these scissors are not perfect. Accuracy and effectiveness vary by the CRISPR enzyme and the project. The new tool guides users, so they can pick the best CRISPR enzyme for their high-stakes gene edit.

We designed a new method that tests the specificity of these different CRISPR enzymes how precise they are robustly against any changes to the DNA sequence that could misdirect them, and in a cleaner way than has ever been done before, said Steve Jones, a UT research scientist who co-wrote the paper with Ilya Finkelstein, an associate professor of molecular biosciences.

Problems can occur when a CRISPR enzyme targets the wrong sections of DNA. Each CRISPR enzyme has strengths and weaknesses in editing different sequences, so the researchers set out to create a tool to help scientists compare the different enzymes and find the best one for a given job.

CRISPR wasnt designed in a lab. It wasnt made by humans for humans. It was made by bacteria to defend against viruses, said John Hawkins, a Ph.D. alumnus who was recently with UTs Oden Institute for Computational Engineering and Sciences. There is incredible potential for its use in medicine, but the first rule of medicine is do no harm. Our work is trying to make CRISPR safer.

The team of researchers developed a library of DNA sequences and measured how accurate each CRISPR enzyme was, how long it took the enzyme to edit the sequences and how precisely they edited the sequence. For some tasks the commonly used enzyme CRISPR-Cas9 worked best; in others, different enzymes performed much better.

Its like a standardized test, Hawkins said. Every student gets the same test, and now you have a benchmark to compare them.

The tool allows scientists to choose the best enzyme for editing on the first try, so the process becomes more efficient and cheaper. Additionally, it gives scientists information about where mistakes are most likely to occur for each enzyme, saving time.

This technique gives us a new way to reduce risk, Jones said. It allows gene edits to be more predictable.

Nicole V. Johnson, Kuang Hu, James R. Rybarski, William H. Press and Ilya J. Finkelstein of The University of Texas at Austin; Cheulhee Jung of Korea University; and Janice S. Chen and Jennifer A. Doudna of University of California, Berkeley, contributed to the research.

The research was funded by a College of Natural Sciences Catalyst Grant, The Welch Foundation and the National Institutes of Health.

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Matching CRISPR to the Job Improves the Safety, Efficiency of the Gene-Editing Tool - UT News | The University of Texas at Austin

LUBBOCK, Texas We all know that family plays a role in our traits like height and hair color. Now, a new study finds that ones genetics may even influence how their wounds heal. Researchers from Texas Tech University say that certain genes are linked to the amount of bacteria and pathogens found in wounds.

These pathogens, collectively known as a wounds microbiome,play a big role in determining how efficiently a wound heals in general. They also factor into how long the healing process will take. The more diverse a wounds microbiome, the faster it heals, according to researchers.

A group of patients treated at Lubbocks Southwest Regional Wound Care Center for a lower-extremity infected wound gave their permission to be included in this study. Each of those patients had a sample taken from their wound, as well as a cheek swab. A number of advanced techniques (microbiome profiling, genome fingerprinting, wet lab validation, etc.) were then used to analyze all of the collected patient samples.

We showed that there are identifiable locations in peoples genome where, depending on their genotype, they tend to get infections by specific bacteria, explains co-study leader Caleb Phillips, assistant professor at Texas Tech University and director of the Phillips Laboratory in the Department of Biological Sciences, in a release. The different genomic locations identified tend to be related in terms of the types of genes they are close to and may regulate. A working hypothesis emerging from the research is that genetic differences influencing genes encoding the way our cells interact with the environment and each other are important for infection differences.

This discovery in and of itself does not offer any tangible benefits for patients. The studys authors say their work sets the stage for future innovations, however.

Personalized medicine is a current hot topic in modern healthcare, where the goal is to identify inherent differences within individuals that may cause them to be impacted differently by disease and finding treatments that are well-suited and tailored to the individual and may contribute to better patient outcomes, says co-study leader Craig Tipton, a doctoral student. Our project furthers two equally-interesting avenues of research with potential translation to the clinic. In one, it is our goal to develop robust genomic predictive models that could help physicians to determine a patients risk for chronic wound infection, particularly to specific bacteria.

In the second, this work helps to inform how genetic variation in patients can influence microbiome-host interactions and wound infection pathogenesis. By further studying infection pathogenesis and how these complex microbial communities interact, it may be possible to improve existing therapies or to develop new therapeutic strategies altogether, Tipton adds.

Professor Phillips is also planning out a follow-up project that will hopefully provide enough genetic information to construct predictive models. Also, a second study is gearing up that will investigate if people living in different regions of the United States exhibit differences in their chronic wound microbiomes.

The study is published in PLOS Pathogens.

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Genetics influence wound infection and healing time, study finds - Study Finds

Lung cancer cells invade surrounding tissues and start to spread.Image courtesy of the National Cancer Institute

A malignant tumor is a bustling metropolis populated by many different kinds of cancer cells. This cellular diversity, however, is what makes cancer so difficult to treat, as each type of cell in a tumor responds differently and sometimes not at all to cancer therapies. This is especially true for lung cancer, which often responds to an initial course of treatment, only to remerge after becoming drug-resistant, making it the deadliest form of cancer worldwide.

A better understanding of the diversity that exists within a lung tumor would likely lead to more effective treatments. Today, clinicians generally rely on tests that generate genetic profiles of biopsied tumors in bulk rather than one cell at a time. Unfortunately, this usually fails to capture the full extent of cellular diversity within tumors and ends up obscuring clinically significant information. This has led scientists to search for ways to assemble a census of the many types of cells that comprise a malignant tumor. Even better would be a more complete picture of how these cell populations evolve during the course of treatment. However, figuring out exactly how to conduct this survey has proven to be a major technical barrier for scientists.

But this hurdle, once thought to be nearly insurmountable, was recently cleared by a research team led by UC San Francisco and Chan Zuckerberg Biohub scientists. The researchers figured out how to assemble genetic profiles of individual lung cancer cells obtained from patients at different times during the course of their treatment. In doing so, they revealed a vast cornucopia of cellular diversity in both lung tumors and the tissue surrounding the tumor as they evolved during the course of treatment clinically significant information that had previously eluded scientists. The findings are detailed in a paper published Aug. 20 in the journal Cell.

This study is among the first of its kind, said Trever Bivona, MD, PhD, professor of medicine and senior author of the study. We observed features of lung cancer cells and the tumor microenvironment that no one had seen before. This gave us a window into the evolution of individual cells within the tumors ecosystem.

Starting with 49 biopsies obtained from 30 lung cancer patients, the researchers used single-cell sequencing to map the landscape of gene activity in over 23,000 individual lung cancer cells at three time points: before treatment, after the tumors stabilized or went into remission during treatment, and after the cancer, despite continuous treatment, had fully re-grown and become treatment resistant.

These single-cell profiles revealed the presence of tumor cells that harbored cancer-driving genetic mutations distinct from those that were identified by the various clinical tests that the patients received during the course of their treatment. Though these mutations were present in only a fraction of cells in each tumor, they had a significant effect on patient outcomes. Patients whose tumors carried two or more of these mutations had significantly lower overall survival rates than patients with fewer than two.

The researchers also found that when lung tumors stabilized or went into remission in response to treatment, some malignant cells were able to cling to life by switching on genes associated with injury repair and survival that are normally only active in healthy lung cells. When these genes are active, the cancer cells enter a repair and survival state that, according to Bivona, puts the cells into hibernation mode so that the cell death machinery doesnt get activated.

But these survival genes have an Achilles heel. They rely on whats known as the Wnt/beta-catenin signaling pathway, which can be targeted with existing drugs. In fact, laboratory tests demonstrated that when administered at the appropriate time, drugs targeting the Wnt/beta-catenin pathway, combined with a common lung cancer therapy, reduced the number of cancer cells that survived.

Our results suggest that we could target specific cell states in lung tumors and improve patient survival by constraining tumor evolution and preventing drug resistance and tumor survival and re-growth, Bivona said.

The study also provides key insights into how the cells and tissue that surround a lung malignancy the tumor microenvironment create conditions that prevent the immune system from taking up arms against the tumor.

Single-cell profiling revealed that the tumor microenvironment was hostile to immune activity both before treatment and after a tumor had evolved drug resistance. However, during treatment, when the cancer is in the hibernation mode revealed in the study, the researchers found that immune cells were able to infiltrate the tumor microenvironment and appeared to be switched on, suggesting there may be a limited window of opportunity during which conventional cancer therapies can be combined with immunotherapies a class of cancer treatments that has proven effective against some cancers, but has largely failed against the types of lung tumors profiled in this study to produce better overall survival rates.

Putting tumor heterogeneity front and center would better equip clinicians with information that allows for a high-resolution window into the evolution of tumors during therapy, and help us use such a roadmap to intervene more proactively to better control tumors and help patients, said Bivona. The single-cell analysis that we proved is feasible in real-life clinical tumors may help usher in a new era in the clinical management of tumors during therapy by strengthening our molecular diagnostic toolkit.

Authors: Additional authors include Caroline E. McCoach, Franziska Haderk, D. Lucas Kerr, Elizabeth A. Yu, Philippe Gui, Tasha Lea, Wei Wu, Anatoly Urisman, Kirk Jones, Pallav K. Kolli, Eric Seeley, Yaron Gesthalter, Sourav Bandyopadhyay, Khyati Shah, Lauren Cech, Nicholas J. Thomas, Anshal Gupta, Mayra Gonzalez, Hien Do, Lisa Tan, Bianca Bacaltos, Matthew Gubens, Thierry Jahan, Johannes R. Kratz, David Jablons, Jonathan Weissman, and Collin M. Blakely of UCSF; Ashley Maynard, Lincoln Harris, Weilun Tan, Alexander Zee, Michelle Tan, Rene Sit, Daniel D. Le, Kevin A. Yamauchi, Rafael Gomez-Sjoberg, Norma Neff, and Spyros Darmanis of Chan Zuckerberg Biohub; Julia K. Rotow of Dana-Farber Cancer Institute; and Erin L. Schenk, David M. Naeger and Robert C. Doebele of the University of Colorado.

Funding: This research was supported by NIH awards U54CA224081, R01CA204302, R01CA211052, R01CA231300, R01CA169338, U01CA217882, R01CA227807, T32 HL007185, and K12 CA086913; the Van Auken Foundation; Novartis Pharmaceuticals; Pfizer; the University of California Cancer League; AstraZeneca; The Damon Runyon Cancer Research Foundation award P0528804; Doris Duke Charitable Foundation award P2018110; V Foundation award P0530519l; and the Mildred Scheel postdoctoral fellowship from the German Cancer Aid.

Disclosures: See manuscript for a full list of disclosures.

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Mapping Genetic Diversity of Lung Tumors Over Time May Lead to More Effective Therapies - UCSF News Services